{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:53:31Z","timestamp":1791327211490,"version":"4.3.1"},"reference-count":270,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T00:00:00Z","timestamp":1722038400000},"content-version":"am","delay-in-days":330,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Pharmacology & Therapeutics"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.pharmthera.2023.108501","type":"journal-article","created":{"date-parts":[[2023,7,21]],"date-time":"2023-07-21T21:05:50Z","timestamp":1689973550000},"page":"108501","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"special_numbering":"C","title":["Pathophysiological mechanisms of complications associated with propionic acidemia"],"prefix":"10.1016","volume":"249","author":[{"given":"Hannah","family":"Marchuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary Alec","family":"Ladd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guo-Fang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.pharmthera.2023.108501_bb0005","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ymgme.2013.05.018","article-title":"Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia","volume":"109","author":"Abacan","year":"2013","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0010","doi-asserted-by":"crossref","first-page":"e208","DOI":"10.1542\/peds.2010-0008","article-title":"N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia","volume":"126","author":"Ah Mew","year":"2010","journal-title":"Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0015","first-page":"339","article-title":"Neonatal onset propionic acidemia without acidosis: a case report","volume":"44","author":"Akman","year":"2002","journal-title":"The Turkish Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0020","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/j.1399-0004.1998.tb03702.x","article-title":"Infectious complications of propionic acidemia in Saudia Arabia","volume":"54","author":"Al Essa","year":"1998","journal-title":"Clinical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0025","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/s10815-010-9514-4","article-title":"Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia","volume":"28","author":"Alberola","year":"2011","journal-title":"Journal of Assisted Reproduction and Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0030","first-page":"548","article-title":"Infantile spasms as the first manifestation of propionic acidemia","volume":"63","author":"Aldamiz-Echevarria Azuar","year":"2005","journal-title":"Anales de Pediatr\u00eda (Barcelona, Spain)"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0035","first-page":"10","article-title":"Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review","volume":"18","author":"Alfadhel","year":"2018","journal-title":"Sudanese Journal of Paediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0040","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1186\/s13023-021-02032-8","article-title":"Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial","volume":"16","author":"Alfadhel","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0045","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1177\/0883073818786157","article-title":"Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients","volume":"33","author":"AlGhamdi","year":"2018","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0050","first-page":"22","article-title":"Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia","volume":"18","author":"Al-Hamed","year":"2019","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0055","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s11011-006-9002-9","article-title":"Propionic acid induces cytoskeletal alterations in cultured astrocytes from rat cerebral cortex","volume":"21","author":"de Almeida","year":"2006","journal-title":"Metabolic Brain Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0060","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1023\/A:1025555132675","article-title":"Effect of propionic and methylmalonic acids on the in vitro phosphorylation of intermediate filaments from cerebral cortex of rats during development","volume":"18","author":"de Almeida","year":"2003","journal-title":"Metabolic Brain Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1237","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.3390\/ijms22031161","article-title":"Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia","volume":"22","author":"Alonso-Barroso","year":"2021","journal-title":"International Journal of Molecular Sciences"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0065","first-page":"63","article-title":"Autism spectrum disorder in a child with propionic acidemia","volume":"7","author":"Al-Owain","year":"2013","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0070","first-page":"660","article-title":"Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythema","volume":"25","author":"Al-Rikabi","year":"2004","journal-title":"Saudi Medical Journal"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0075","doi-asserted-by":"crossref","first-page":"5114","DOI":"10.1002\/fsn3.1813","article-title":"Antioxidant and hepatorenal protective effects of bee pollen fractions against propionic acid-induced autistic feature in rats","volume":"8","author":"Al-Salem","year":"2020","journal-title":"Food Science & Nutrition"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0080","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/jnc.13544","article-title":"2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria","volume":"137","author":"Amaral","year":"2016","journal-title":"Journal of Neurochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0085","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2019.165538","article-title":"Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism","volume":"1865","author":"Anzmann","year":"2019","journal-title":"Biochimica et Biophysica Acta - Molecular Basis of Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0090","first-page":"1","article-title":"Propionic acidemia and optic neuropathy: a report of two cases","volume":"12","author":"Arias","year":"2014","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0095","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.ymgme.2021.03.001","article-title":"A novel small molecule approach for the treatment of propionic and methylmalonic acidemias","volume":"133","author":"Armstrong","year":"2021","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0100","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1111\/tri.12677","article-title":"Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up","volume":"28","author":"Arrizza","year":"2015","journal-title":"Transplant International"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0105","first-page":"91","article-title":"Spongy degeneration of the nervous system associated with propionic acidemia","volume":"27","author":"Asconape","year":"1981","journal-title":"Acta Neurol\u00f3gica Latinoamericana"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0110","first-page":"e174","article-title":"Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant","volume":"118","author":"Aydin Koker","year":"2020","journal-title":"Archivos Argentinos de Pediatr\u00eda"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0115","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/S0140-6736(70)92590-0","article-title":"Biotin-responsive propionicacidaemia","volume":"2","author":"Barnes","year":"1970","journal-title":"Lancet"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0120","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1111\/j.1399-3046.2006.00569.x","article-title":"Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review","volume":"10","author":"Barshes","year":"2006","journal-title":"Pediatric Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0125","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1203\/00006450-199107000-00004","article-title":"Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism","volume":"30","author":"Barshop","year":"1991","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0130","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/S0140-6736(76)90640-1","article-title":"Combined carboxylase defect: biotin-responsiveness in cultured fibroblasts","volume":"2","author":"Bartlett","year":"1976","journal-title":"Lancet"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0135","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.mito.2014.07.001","article-title":"Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism","volume":"17","author":"Baruteau","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0140","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s10545-017-0070-2","article-title":"Autism spectrum disorders in propionic acidemia patients","volume":"41","author":"de la Batie","year":"2018","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0145","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13023-014-0130-8","article-title":"Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia","volume":"9","author":"Baumgartner","year":"2014","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1238","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1203\/00006450-199609000-00007","article-title":"Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations","volume":"40","author":"Bergman","year":"1996","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0150","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1186\/s12882-017-0535-4","article-title":"Antenatal nephromegaly and propionic acidemia: a case report","volume":"18","author":"Bernheim","year":"2017","journal-title":"BMC Nephrology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0155","first-page":"3","article-title":"The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation","volume":"54","author":"Berry","year":"2020","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0160","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1527-5299.2001.01011.x","article-title":"Propionic acidemia: a rare cause of cardiomyopathy","volume":"7","author":"Bhan","year":"2001","journal-title":"Congestive Heart Failure"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0165","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1016\/j.hrthm.2016.02.003","article-title":"Mechanisms of acquired long QT syndrome in patients with propionic academia","volume":"13","author":"Bodi","year":"2016","journal-title":"Heart Rhythm"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0170","doi-asserted-by":"crossref","DOI":"10.3390\/microorganisms9122599","article-title":"Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation","volume":"9","author":"Bordugo","year":"2021","journal-title":"Microorganisms"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0175","first-page":"1379","article-title":"Propionic acidemia and anorectal anomalies in three siblings","volume":"131","author":"Branski","year":"1977","journal-title":"American Journal of Diseases of Children"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0180","first-page":"1459","article-title":"CT and MR of the brain in disorders of the propionate and methylmalonate metabolism","volume":"15","author":"Brismar","year":"1994","journal-title":"AJNR. American Journal of Neuroradiology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0185","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1055\/s-0031-1273720","article-title":"Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?","volume":"41","author":"Broomfield","year":"2010","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1240","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/S0091-3057(99)00127-6","article-title":"Effect of chemically induced propionic acidemia on neurobehavioral development of rats","volume":"64","author":"Brusque","year":"1999","journal-title":"Pharmacology Biochemistry and Behavior"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0190","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1097\/MPH.0b013e31829b92fe","article-title":"Immune thrombocytopenic purpura in a case of propionic acidemia: case report","volume":"36","author":"Bulan","year":"2014","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0195","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1097\/MPG.0b013e3181132252","article-title":"Recurrent acute pancreatitis associated with propionic acidemia","volume":"47","author":"Bultron","year":"2008","journal-title":"Journal of Pediatric Gastroenterology and Nutrition"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0200","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2008.05.006","article-title":"Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia","volume":"95","author":"Bustamante-Aragones","year":"2008","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0205","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s00467-013-2664-8","article-title":"Urolithiasis in an infant with propionic acidemia: answer","volume":"30","author":"Caltik Yilmaz","year":"2015","journal-title":"Pediatric Nephrology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0210","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00467-013-2653-y","article-title":"Urolithiasis in an infant with propionic acidemia: questions","volume":"30","author":"Caltik Yilmaz","year":"2015","journal-title":"Pediatric Nephrology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0215","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/neup.12861","article-title":"Neuropathological report of propionic acidemia","volume":"43","author":"Cao","year":"2023","journal-title":"Neuropathology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0220","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1203\/00006450-198412000-00021","article-title":"Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine","volume":"18","author":"Chalmers","year":"1984","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0225","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1089\/hum.2010.164","article-title":"Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia","volume":"22","author":"Chandler","year":"2011","journal-title":"Human Gene Therapy"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0230","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ymgme.2015.05.004","article-title":"Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls","volume":"115","author":"Chapman","year":"2015","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0235","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.ymgme.2011.09.026","article-title":"Acute management of propionic acidemia","volume":"105","author":"Chapman","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0240","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s10545-017-0111-x","article-title":"Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism","volume":"41","author":"Chapman","year":"2018","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0245","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1111\/j.1399-3046.2012.01649.x","article-title":"Propionic acidemia: to liver transplant or not to liver transplant?","volume":"16","author":"Chapman","year":"2012","journal-title":"Pediatric Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0250","first-page":"905","article-title":"Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria","volume":"9","author":"Cheema-Dhadli","year":"1975","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0255","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s10528-014-9657-6","article-title":"Two frequent mutations associated with the classic form of propionic acidemia in Taiwan","volume":"52","author":"Chiu","year":"2014","journal-title":"Biochemical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0260","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1006\/mgme.2000.3097","article-title":"Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli","volume":"71","author":"Chloupkova","year":"2000","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0265","doi-asserted-by":"crossref","DOI":"10.3346\/jkms.2019.34.e303","article-title":"Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child","volume":"34","author":"Choe","year":"2019","journal-title":"Journal of Korean Medical Science"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0270","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13023-019-1045-1","article-title":"Methylmalonic acidemia\/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups","volume":"14","author":"Chu","year":"2019","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0275","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s00439-004-1147-1","article-title":"Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes","volume":"115","author":"Clavero","year":"2004","journal-title":"Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0280","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.neuroscience.2015.09.002","article-title":"Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias","volume":"308","author":"Colin-Gonzalez","year":"2015","journal-title":"Neuroscience"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1258","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ymgme.2020.05.003","article-title":"Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes","volume":"130","author":"Collado","year":"2020","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0285","doi-asserted-by":"crossref","DOI":"10.1128\/MCB.00491-17","article-title":"Import of TAT-conjugated propionyl coenzyme A carboxylase using models of propionic acidemia","volume":"38","author":"Collard","year":"2018","journal-title":"Molecular and Cellular Biology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0290","first-page":"70","article-title":"High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry","volume":"51","author":"Cotrina","year":"2020","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0295","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1172\/JCI109614","article-title":"Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia","volume":"64","author":"Coude","year":"1979","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0300","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1002\/lt.25304","article-title":"Liver transplantation for propionic acidemia and methylmalonic acidemia: perioperative management and clinical outcomes","volume":"24","author":"Critelli","year":"2018","journal-title":"Liver Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0305","first-page":"51","article-title":"Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia","volume":"8","author":"Darvish-Damavandi","year":"2016","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0310","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1001\/archneur.1984.04050230079025","article-title":"Cerebellar hemorrhage complicating methylmalonic and propionic acidemia","volume":"41","author":"Dave","year":"1984","journal-title":"Archives of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0315","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-6-19","article-title":"MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation","volume":"6","author":"Davison","year":"2011","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0320","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/S0022-3476(94)70364-7","article-title":"Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria","volume":"124","author":"De Raeve","year":"1994","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0325","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1177\/0883073813508812","article-title":"Acute psychosis in propionic acidemia: 2 case reports","volume":"29","author":"Dejean de la Batie","year":"2014","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0330","article-title":"Ventricular arrhythmias in a patient with propionic acidemia","volume":"14","author":"Della Rossa","year":"2022","journal-title":"Cureus"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0335","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2004.08.001","article-title":"Propionic acidemia: mutation update and functional and structural effects of the variant alleles","volume":"83","author":"Desviat","year":"2004","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0340","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0009-8981(84)90187-6","article-title":"Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency","volume":"139","author":"Di Donato","year":"1984","journal-title":"Clinica Chimica Acta"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0345","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1212\/WNL.0000000000006209","article-title":"Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy","volume":"91","author":"Diodato","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0350","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1086\/302938","article-title":"Phenotypes of patients with \u201csimple\u201d Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics","volume":"66","author":"Dipple","year":"2000","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0355","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1016\/j.braindev.2010.06.016","article-title":"Propionic acidemia mimicking diabetic ketoacidosis","volume":"33","author":"Dweikat","year":"2011","journal-title":"Brain Dev"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0360","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1067\/mpd.2000.104290","article-title":"Resting energy expenditure in disorders of propionate metabolism","volume":"136","author":"Feillet","year":"2000","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0365","doi-asserted-by":"crossref","first-page":"e325","DOI":"10.5858\/2003-127-e325-PAANCR","article-title":"Propionic acidemia: a neuropathology case report and review of prior cases","volume":"127","author":"Feliz","year":"2003","journal-title":"Archives of Pathology & Laboratory Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0370","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1007\/s10571-011-9675-4","article-title":"Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats","volume":"31","author":"Fernandes","year":"2011","journal-title":"Cellular and Molecular Neurobiology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0375","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.anpedi.2009.08.007","article-title":"N-carbamyl glutamate treatment in hyperammoniemia decompensated propionic acidaemia","volume":"71","author":"Fernandez de Miguel","year":"2009","journal-title":"Anales de Pediatr\u00eda (Barcelona, Spain)"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0380","first-page":"459","article-title":"The neonatal form of propionic acidemia","volume":"29","author":"Figueras Aloy","year":"1988","journal-title":"Anales Espa\u00f1oles de Pediatr\u00eda"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1253","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ymgme.2005.11.016","article-title":"Metabolic changes associated with hyperammonemia in patients with propionic acidemia","volume":"88","author":"Filipowicz","year":"2006","journal-title":"Molecular Genetics and Metabolism"},{"issue":"Suppl. 1","key":"10.1016\/j.pharmthera.2023.108501_bb0385","doi-asserted-by":"crossref","first-page":"S179","DOI":"10.1007\/s10545-009-1141-9","article-title":"Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias","volume":"32","author":"Filippi","year":"2009","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0390","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1159\/000255168","article-title":"N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria","volume":"97","author":"Filippi","year":"2010","journal-title":"Neonatology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0395","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.mito.2011.02.002","article-title":"Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia","volume":"11","author":"Fragaki","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0400","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1254\/fpj.93.305","article-title":"Studies on the beneficial effect of levocarnitine chloride (LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia","volume":"93","author":"Fujisawa","year":"1989","journal-title":"Nihon Yakurigaku Zasshi"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0405","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.trsl.2019.12.004","article-title":"Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy","volume":"218","author":"Fulgencio-Covian","year":"2020","journal-title":"Translational Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0410","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.bbrc.2014.08.091","article-title":"Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts","volume":"452","author":"Gallego-Villar","year":"2014","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0415","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1007\/s10545-012-9545-3","article-title":"Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia","volume":"36","author":"Gallego-Villar","year":"2013","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0420","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.freeradbiomed.2016.04.007","article-title":"In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder","volume":"96","author":"Gallego-Villar","year":"2016","journal-title":"Free Radical Biology & Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0425","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1002\/jimd.12231","article-title":"Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study","volume":"43","author":"Gancheva","year":"2020","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0430","doi-asserted-by":"crossref","first-page":"3090","DOI":"10.1002\/ajmg.a.32561","article-title":"Hyperamylasemia\/hyperlipasemia in a child with propionic acidemia","volume":"146A","author":"Gilmore","year":"2008","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0435","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1016\/0885-4505(86)90097-6","article-title":"Methylmalonic and propionic acidemias: lipid profiles of normal and affected human skin fibroblasts incubated with [1-14C]propionate","volume":"35","author":"Giudici","year":"1986","journal-title":"Biochemical Medicine and Metabolic Biology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0440","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1373\/clinchem.2017.281246","article-title":"Dilated cardiomyopathy and premature ovarian failure unveiling propionic aciduria","volume":"64","author":"Grotto","year":"2018","journal-title":"Clinical Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0445","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-017-0585-5","article-title":"Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia","volume":"12","author":"Grunert","year":"2017","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0450","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1089\/hum.2014.126","article-title":"Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors","volume":"26","author":"Guenzel","year":"2015","journal-title":"Human Gene Therapy"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0455","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1089\/hum.2014.012","article-title":"Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia","volume":"25","author":"Guenzel","year":"2014","journal-title":"Human Gene Therapy"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0460","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1038\/mt.2013.68","article-title":"Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing","volume":"21","author":"Guenzel","year":"2013","journal-title":"Molecular Therapy"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0465","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1177\/088307389501000104","article-title":"Acute basal ganglia infarction in propionic acidemia","volume":"10","author":"Haas","year":"1995","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0470","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1177\/088307389501000107","article-title":"Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions","volume":"10","author":"Hamilton","year":"1995","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0475","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgmr.2019.100537","article-title":"Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant","volume":"21","author":"Hannah","year":"2019","journal-title":"Molecular Genetics and Metabolism Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0480","first-page":"309","article-title":"Propionic acidemia in a four-month-old male: a case study and anesthetic implications","volume":"91","author":"Harker","year":"2000","journal-title":"Anesthesia and Analgesia"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0485","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1620\/tjem.137.329","article-title":"Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity","volume":"137","author":"Hayasaka","year":"1982","journal-title":"The Tohoku Journal of Experimental Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0490","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1203\/00006450-198201001-00002","article-title":"Glycine cleavage system in ketotic hyperglycinemia: a reduction of H-protein activity","volume":"16","author":"Hayasaka","year":"1982","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0495","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/s11306-023-01975-2","article-title":"Ischemia promotes acyl-CoAs dephosphorylation and propionyl-CoA accumulation","volume":"19","author":"He","year":"2023","journal-title":"Metabolomics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0500","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2021.09.009","article-title":"Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia","volume":"134","author":"He","year":"2021","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0505","first-page":"1","article-title":"The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East","author":"Hejazi","year":"2022","journal-title":"Cardiology in the Young"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0510","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/S0022-3476(78)80441-7","article-title":"Biotin-responsive propionic acidemia presenting as the rumination syndrome","volume":"92","author":"Hillman","year":"1978","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0515","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1089\/hum.2008.158","article-title":"Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy","volume":"20","author":"Hofherr","year":"2009","journal-title":"Human Gene Therapy"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0520","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1203\/00006450-196811000-00010","article-title":"Propionicacidemia, a new inborn error of metabolism","volume":"2","author":"Hommes","year":"1968","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0525","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1203\/00006450-197906000-00005","article-title":"Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia","volume":"13","author":"Hsia","year":"1979","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0530","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10545-005-0457-3","article-title":"Breastfeeding experience in inborn errors of metabolism other than phenylketonuria","volume":"28","author":"Huner","year":"2005","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0535","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13023-021-01685-9","article-title":"Pancreatic involvement in patients with inborn errors of metabolism","volume":"16","author":"Hwang","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0540","doi-asserted-by":"crossref","first-page":"1850","DOI":"10.1016\/S0161-6420(03)00573-6","article-title":"Optic nerve atrophy in propionic acidemia","volume":"110","author":"Ianchulev","year":"2003","journal-title":"Ophthalmology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0545","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/j.ymgme.2018.01.009","article-title":"Long-term liver disease in methylmalonic and propionic acidemias","volume":"123","author":"Imbard","year":"2018","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1251","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.clinbiochem.2019.02.005","article-title":"Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia","volume":"66","author":"Item","year":"2019","journal-title":"Clinical Biochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0550","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1007\/s00246-010-9723-8","article-title":"Delayed enhancement cardiac magnetic resonance imaging in propionic acidemia","volume":"31","author":"Iwashima","year":"2010","journal-title":"Pediatric Cardiology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0555","doi-asserted-by":"crossref","first-page":"27719","DOI":"10.1074\/jbc.M413281200","article-title":"Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli","volume":"280","author":"Jiang","year":"2005","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0560","doi-asserted-by":"crossref","first-page":"5339","DOI":"10.1038\/s41467-020-19156-3","article-title":"Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia","volume":"11","author":"Jiang","year":"2020","journal-title":"Nature Communications"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0565","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.pediatrneurol.2008.10.021","article-title":"Propionic acidemia: Case report and review of neurologic sequelae","volume":"40","author":"Johnson","year":"2009","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0570","first-page":"164","article-title":"Propionic acidemia presenting as diabetic ketoacidosis","volume":"48","author":"Joshi","year":"2011","journal-title":"Indian Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0575","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1177\/0883073812441057","article-title":"Reversible diffusion weighted imaging changes in propionic acidemia","volume":"28","author":"Kandel","year":"2013","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1241","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1055\/s-0031-1287772","article-title":"Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia","volume":"42","author":"Karall","year":"2011","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0580","first-page":"58","article-title":"Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder","volume":"8","author":"Karimzadeh","year":"2014","journal-title":"Iranian Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0585","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1111\/j.1399-3046.2011.01607.x","article-title":"Living-donor liver transplantation for propionic acidemia","volume":"16","author":"Kasahara","year":"2012","journal-title":"Pediatric Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0590","doi-asserted-by":"crossref","first-page":"451","DOI":"10.3109\/0886022X.2013.865484","article-title":"Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course","volume":"36","author":"Kasapkara","year":"2014","journal-title":"Renal Failure"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0595","article-title":"Secondary hemophagocytosis in propionic acidemia","volume":"25","author":"Kasapkara","year":"2015","journal-title":"Iranian Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0600","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1203\/PDR.0b013e3181a7c270","article-title":"Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria","volume":"66","author":"de Keyzer","year":"2009","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0605","doi-asserted-by":"crossref","first-page":"4709548","DOI":"10.1155\/2020\/4709548","article-title":"Carglumic acid contributes to a favorable clinical course in a case of severe propionic acidemia","volume":"2020","author":"Kido","year":"2020","journal-title":"Case Reports in Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1247","doi-asserted-by":"crossref","first-page":"E115","DOI":"10.1111\/hdi.12778","article-title":"Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation","volume":"23","author":"Kido","year":"2019","journal-title":"Hemodialysis International"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0610","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/S1096-7192(02)00139-7","article-title":"Molecular analysis of PCCB gene in Korean patients with propionic acidemia","volume":"77","author":"Kim","year":"2002","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0615","article-title":"Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias","volume":"26","author":"Kiykim","year":"2021","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0620","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1007\/s10545-015-9839-3","article-title":"The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation","volume":"38","author":"Kolker","year":"2015","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0625","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1007\/s10545-015-9840-x","article-title":"The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype","volume":"38","author":"Kolker","year":"2015","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0630","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.1212\/WNL.0b013e3182648bb6","article-title":"Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy","volume":"79","author":"Komatsuzaki","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0635","doi-asserted-by":"crossref","first-page":"330","DOI":"10.24953\/turkjped.2019.03.003","article-title":"Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations","volume":"61","author":"Kor","year":"2019","journal-title":"The Turkish Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0640","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.ymgme.2020.02.004","article-title":"Cardiac phenotype in propionic acidemia - Results of an observational monocentric study","volume":"130","author":"Kovacevic","year":"2020","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0645","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ymgme.2022.10.007","article-title":"Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study","volume":"137","author":"Kovacevic","year":"2022","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0650","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10545-011-9399-0","article-title":"Mutation analysis in 54 propionic acidemia patients","volume":"35","author":"Kraus","year":"2012","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1246","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/0009-8981(82)90118-8","article-title":"Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia","volume":"123","author":"Kuhara","year":"1982","journal-title":"Clinica Chimica Acta"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0655","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1203\/00006450-198907000-00018","article-title":"Metabolic studies of carnitine in a child with propionic acidemia","volume":"26","author":"Kurczynski","year":"1989","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0660","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1007\/s00431-014-2359-6","article-title":"Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy","volume":"173","author":"Laemmle","year":"2014","journal-title":"European Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0665","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/jimd.12296","article-title":"Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes","volume":"44","author":"Lagerwaard","year":"2021","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0670","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ymgme.2011.04.007","article-title":"45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?","volume":"103","author":"Lam","year":"2011","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0675","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1006\/geno.1994.1099","article-title":"Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit","volume":"19","author":"Lamhonwah","year":"1994","journal-title":"Genomics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0680","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1111\/j.1525-1470.2007.00505.x","article-title":"Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis","volume":"24","author":"Lane","year":"2007","journal-title":"Pediatric Dermatology"},{"issue":"Suppl. 1","key":"10.1016\/j.pharmthera.2023.108501_bb0685","doi-asserted-by":"crossref","first-page":"S97","DOI":"10.1007\/s10545-009-1084-1","article-title":"Unusual presentation of propionic acidaemia as isolated cardiomyopathy","volume":"32","author":"Lee","year":"2009","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0690","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13023-022-02271-3","article-title":"Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital","volume":"17","author":"Liu","year":"2022","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0695","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.ymgme.2017.07.003","article-title":"Anaplerotic therapy in propionic acidemia","volume":"122","author":"Longo","year":"2017","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0700","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.numecd.2022.12.022","article-title":"Combined heart and liver transplantation in a patient supported by left ventricular assist device (LVAD) with propionic acidemia","volume":"33","author":"Lotan","year":"2023","journal-title":"Nutrition, Metabolism, and Cardiovascular Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0705","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/j.metabol.2003.12.025","article-title":"Propionic acidemia: unusual course with late onset and fatal outcome","volume":"53","author":"Lucke","year":"2004","journal-title":"Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0710","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/j.bbr.2006.07.025","article-title":"Neurobiological effects of intraventricular propionic acid in rats: possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders","volume":"176","author":"MacFabe","year":"2007","journal-title":"Behavioural Brain Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0715","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.bbr.2010.10.005","article-title":"Effects of the enteric bacterial metabolic product propionic acid on object-directed behavior, social behavior, cognition, and neuroinflammation in adolescent rats: Relevance to autism spectrum disorder","volume":"217","author":"MacFabe","year":"2011","journal-title":"Behavioural Brain Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0720","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.ymgme.2005.04.004","article-title":"Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy","volume":"85","author":"Mardach","year":"2005","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0725","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1136\/bjophthalmol-2015-306798","article-title":"Optic neuropathy in methylmalonic acidemia and propionic acidemia","volume":"100","author":"Martinez Alvarez","year":"2016","journal-title":"The British Journal of Ophthalmology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0730","doi-asserted-by":"crossref","first-page":"3673","DOI":"10.1016\/S0021-9258(18)32718-2","article-title":"Interactions between alpha-ketoisovalerate metabolism and the pathways of gluconeogenesis and urea synthesis in isolated hepatocytes","volume":"258","author":"Martin-Requero","year":"1983","journal-title":"The Journal of Biological Chemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0735","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0022-3476(96)70162-2","article-title":"Primary treatment of propionic acidemia complicated by acute thiamine deficiency","volume":"129","author":"Matern","year":"1996","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0740","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1006\/exnr.1997.6602","article-title":"In vitro phosphorylation of cytoskeletal proteins in the rat cerebral cortex is decreased by propionic acid","volume":"147","author":"de Mattos-Dutra","year":"1997","journal-title":"Experimental Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1245","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0887-8994(86)90062-7","article-title":"Carnitine status in Reye and Reye-like syndromes","volume":"2","author":"Matsuda","year":"1986","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1255","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/0885-4505(91)90027-I","article-title":"Propionate mitochondrial toxicity in liver and skeletal muscle: acyl CoA levels","volume":"45","author":"Matsuishi","year":"1991","journal-title":"Biochemical Medicine and Metabolic Biology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0745","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.ymgme.2009.06.007","article-title":"Profiling of oxidative stress in patients with inborn errors of metabolism","volume":"98","author":"Mc Guire","year":"2009","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0750","doi-asserted-by":"crossref","first-page":"101","DOI":"10.15586\/aei.v49i1.27","article-title":"Abnormalities in subsets of B and T cells in Mexican patients with inborn errors of propionate metabolism: observations from a single-center case series","volume":"49","author":"Medina-Torres","year":"2021","journal-title":"Allergol Immunopathol (Madr)"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0755","first-page":"1143","article-title":"Effects of methylmalonate and propionate on [3H]glutamate binding, adenylate cyclase activity and lipid synthesis in rat cerebral cortex","volume":"42","author":"de Mello","year":"1997","journal-title":"Biochemistry and Molecular Biology International"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0760","doi-asserted-by":"crossref","first-page":"S135","DOI":"10.1097\/01.tp.0000186905.10088.e5","article-title":"Liver transplantation for inborn errors of metabolism","volume":"80","author":"Meyburg","year":"2005","journal-title":"Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0765","doi-asserted-by":"crossref","first-page":"35995","DOI":"10.1074\/jbc.M105467200","article-title":"Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene","volume":"276","author":"Miyazaki","year":"2001","journal-title":"The Journal of Biological Chemistry"},{"issue":"Suppl. 1","key":"10.1016\/j.pharmthera.2023.108501_bb0770","doi-asserted-by":"crossref","first-page":"S37","DOI":"10.1007\/s10545-009-1029-8","article-title":"Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure","volume":"32","author":"Mizuguchi","year":"2009","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0775","doi-asserted-by":"crossref","first-page":"1897495","DOI":"10.1155\/2018\/1897495","article-title":"Domino liver transplantation from a child with propionic acidemia to a child with idiopathic fulminant hepatic failure","volume":"2018","author":"Moguilevitch","year":"2018","journal-title":"Case Reports in Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1250","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ymgme.2019.02.003","article-title":"Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment","volume":"126","author":"Molema","year":"2019","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1248","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1042\/BCJ20170814","article-title":"Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia","volume":"475","author":"Morland","year":"2018","journal-title":"Biochemical Journal"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0780","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ymgme.2012.10.022","article-title":"Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation","volume":"108","author":"Nagao","year":"2013","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0785","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1111\/j.1471-4159.2006.04397.x","article-title":"Propionate increases neuronal histone acetylation, but is metabolized oxidatively by glia. Relevance for propionic acidemia","volume":"101","author":"Nguyen","year":"2007","journal-title":"Journal of Neurochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0790","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1016\/S0022-3476(95)70208-3","article-title":"Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management","volume":"126","author":"North","year":"1995","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0795","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1097\/WNO.0b013e318273c03b","article-title":"Late optic neuropathy in propionic acidemia following surgical intervention","volume":"33","author":"Noval","year":"2013","journal-title":"Journal of Neuro-Ophthalmology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0800","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1001\/archneur.56.9.1143","article-title":"Neurologic nonmetabolic presentation of propionic acidemia","volume":"56","author":"Nyhan","year":"1999","journal-title":"Archives of Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1252","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.ymgme.2015.08.009","article-title":"Biotin deprivation impairs mitochondrial structure and function and has implications for inherited metabolic disorders","volume":"116","author":"Ochoa-Ruiz","year":"2015","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0805","first-page":"33","article-title":"Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients","volume":"45","author":"Ohura","year":"1989","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0810","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/0003-9861(84)90457-0","article-title":"The regulation of hepatic gluconeogenesis using alpha-ketoisovalerate and propionate as precursors","volume":"233","author":"Patel","year":"1984","journal-title":"Archives of Biochemistry and Biophysics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0815","doi-asserted-by":"crossref","first-page":"584","DOI":"10.33963\/KP.14852","article-title":"Rare indication for cardioverter-defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval","volume":"77","author":"Peregud-Pogorzelska","year":"2019","journal-title":"Kardiologia Polska"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0820","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S1096-7192(02)00197-X","article-title":"Propionic acidemia: identification of twenty-four novel mutations in Europe and North America","volume":"78","author":"Perez","year":"2003","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0825","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0925-4439(03)00039-5","article-title":"Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts","volume":"1638","author":"Perez-Cerda","year":"2003","journal-title":"Biochimica et Biophysica Acta"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0830","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1002\/pd.1057","article-title":"Prenatal diagnosis of propionic acidemia","volume":"24","author":"Perez-Cerda","year":"2004","journal-title":"Prenatal Diagnosis"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0835","doi-asserted-by":"crossref","first-page":"87","DOI":"10.3109\/01677068709167220","article-title":"Pharmacologic amino acid acylation in the acute hyperammonemia of propionic acidemia","volume":"4","author":"Petrowski","year":"1987","journal-title":"Journal of Neurogenetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0840","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/S0091-3057(02)00856-0","article-title":"Ascorbic acid prevents cognitive deficits caused by chronic administration of propionic acid to rats in the water maze","volume":"73","author":"Pettenuzzo","year":"2002","journal-title":"Pharmacology, Biochemistry, and Behavior"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0845","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.radcr.2018.08.011","article-title":"Unique neuroradiological findings in propionic acidemia","volume":"13","author":"Pfeifer","year":"2018","journal-title":"Radiology Case Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0850","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/j.jpeds.2003.12.044","article-title":"The importance of gut motility in the metabolic control of propionic acidemia","volume":"144","author":"Prasad","year":"2004","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0855","first-page":"412","article-title":"Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations","volume":"1","author":"Prasun","year":"2014","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0860","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1002\/lt.25344","article-title":"The Role of Liver Transplantation in Propionic Acidemia","volume":"24","author":"Quintero","year":"2018","journal-title":"Liver Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0865","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1590\/0004-2730000002821","article-title":"Emerging trends in management of propionic acidemia","volume":"58","author":"Rafique","year":"2014","journal-title":"Arquivos Brasileiros de Endocrinologia e Metabologia"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0870","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1111\/j.1600-6143.2007.01899.x","article-title":"Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up","volume":"7","author":"Rela","year":"2007","journal-title":"American Journal of Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0875","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.mrgentox.2010.07.008","article-title":"Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro","volume":"702","author":"Ribas","year":"2010","journal-title":"Mutation Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0880","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1038\/ejhg.2017.127","article-title":"Propionic acidemia as a cause of adult-onset dilated cardiomyopathy","volume":"25","author":"Riemersma","year":"2017","journal-title":"European Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0885","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.neulet.2006.08.075","article-title":"Propionic acid induces convulsions and protein carbonylation in rats","volume":"408","author":"Rigo","year":"2006","journal-title":"Neuroscience Letters"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0890","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1086\/522376","article-title":"Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA","volume":"81","author":"Rincon","year":"2007","journal-title":"American Journal of Human Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0895","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ymgme.2017.07.009","article-title":"Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia","volume":"122","author":"Rivera-Barahona","year":"2017","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0900","doi-asserted-by":"crossref","first-page":"5727","DOI":"10.1038\/s41598-017-06420-8","article-title":"Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia","volume":"7","author":"Rivera-Barahona","year":"2017","journal-title":"Scientific Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0905","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/j.ymgme.2018.09.008","article-title":"Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations","volume":"125","author":"Rivera-Barahona","year":"2018","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0910","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1172\/JCI111387","article-title":"L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia","volume":"73","author":"Roe","year":"1984","journal-title":"The Journal of Clinical Investigation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0915","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s11010-019-03534-7","article-title":"Experimental evidence that maleic acid markedly compromises glutamate oxidation through inhibition of glutamate dehydrogenase and alpha-ketoglutarate dehydrogenase activities in kidney of developing rats","volume":"458","author":"Roginski","year":"2019","journal-title":"Molecular and Cellular Biochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0920","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2020.165682","article-title":"Disturbance of bioenergetics and calcium homeostasis provoked by metabolites accumulating in propionic acidemia in heart mitochondria of developing rats","volume":"1866","author":"Roginski","year":"2020","journal-title":"Biochimica et Biophysica Acta - Molecular Basis of Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0925","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s10863-022-09945-4","article-title":"Disruption of mitochondrial functions involving mitochondrial permeability transition pore opening caused by maleic acid in rat kidney","volume":"54","author":"Roginski","year":"2022","journal-title":"Journal of Bioenergetics and Biomembranes"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0930","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.jpeds.2009.07.002","article-title":"Cardiomyopathies in propionic aciduria are reversible after liver transplantation","volume":"156","author":"Romano","year":"2010","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1249","first-page":"67","article-title":"Dietary management and growth outcomes in children with propionic acidemia: A natural history study","volume":"61","author":"Saleemani","year":"2021","journal-title":"Journal of Inherited Metabolic Disease Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0935","doi-asserted-by":"crossref","first-page":"e505","DOI":"10.1111\/j.1651-2227.2012.02799.x","article-title":"Patients with organic acidaemias have an altered thiol status","volume":"101","author":"Salmi","year":"2012","journal-title":"Acta Paediatrica"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0940","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1002\/humu.22047","article-title":"Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia","volume":"33","author":"Sanchez-Alcudia","year":"2012","journal-title":"Human Mutation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0945","first-page":"429","article-title":"Infant boy with propionic acidemia: anesthetic implications","volume":"52","author":"Sanchez-Rodenas","year":"2005","journal-title":"Revista Espa\u00f1ola de Anestesiolog\u00eda y Reanimaci\u00f3n"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0950","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1620\/tjem.139.411","article-title":"Dietary therapy in a girl with propionic acidemia: supplement with leucine resulted in catch up growth","volume":"139","author":"Satoh","year":"1983","journal-title":"The Tohoku Journal of Experimental Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0955","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1213\/XAA.0000000000000077","article-title":"Propionic acidemia in a parturient presenting for induction of labor","volume":"3","author":"Schmeck","year":"2014","journal-title":"A & A case reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0960","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1055\/s-0029-1231065","article-title":"Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation","volume":"40","author":"Scholl-Burgi","year":"2009","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0965","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.ymgme.2011.10.003","article-title":"Neurologic considerations in propionic acidemia","volume":"105","author":"Schreiber","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1242","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1002\/jimd.12419","article-title":"Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria","volume":"44","author":"Schumann","year":"2021","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0970","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s00431-009-1036-7","article-title":"Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia","volume":"169","author":"Schwahn","year":"2010","journal-title":"European Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0975","first-page":"36","article-title":"Long-term outcomes in Amish patients diagnosed with propionic acidemia","volume":"16","author":"Scott Schwoerer","year":"2018","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0980","first-page":"4","article-title":"Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community","volume":"8","author":"Scott Schwoerer","year":"2016","journal-title":"Mol Genet Metab Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0985","doi-asserted-by":"crossref","first-page":"ytac202","DOI":"10.1093\/ehjcr\/ytac202","article-title":"Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: A case report","volume":"6","author":"Seguchi","year":"2022","journal-title":"European Heart Journal - Case Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0990","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1212\/WNL.39.10.1343","article-title":"Adult-onset chorea and dementia with propionic acidemia","volume":"39","author":"Sethi","year":"1989","journal-title":"Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb0995","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/lt.25463","article-title":"Minimally invasive treatment of metabolic decompensation due to portal steal in auxiliary liver transplantation","volume":"25","author":"Shankar","year":"2019","journal-title":"Liver Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1000","first-page":"29","article-title":"Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases: Single-centre experience","volume":"45","author":"Shanmugam","year":"2019","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1005","series-title":"GeneReviews((R)). Seattle (WA)","article-title":"Propionic acidemia","author":"Shchelochkov","year":"1993"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1010","doi-asserted-by":"crossref","first-page":"2830","DOI":"10.1038\/s41436-019-0593-z","article-title":"Chronic kidney disease in propionic acidemia","volume":"21","author":"Shchelochkov","year":"2019","journal-title":"Genetics in Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1015","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1177\/0883073811426929","article-title":"Propionic acidemia associated with visual hallucinations","volume":"27","author":"Shuaib","year":"2012","journal-title":"Journal of Child Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1020","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1515\/jpem-2012-0148","article-title":"Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia","volume":"26","author":"Siekmeyer","year":"2013","journal-title":"Journal of Pediatric Endocrinology & Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1239","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1590\/S0100-879X2001000500010","article-title":"Inhibition of in vitro CO2 production and lipid synthesis by 2-hydroxybutyric acid in rat brain","volume":"34","author":"Silva","year":"2001","journal-title":"Brazilian Journal of Medical and Biological Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1025","doi-asserted-by":"crossref","first-page":"e73","DOI":"10.1097\/MPG.0000000000000626","article-title":"Liver Transplantation for Propionic Acidemia","volume":"64","author":"Silva","year":"2017","journal-title":"Journal of Pediatric Gastroenterology and Nutrition"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1030","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s12291-012-0218-7","article-title":"Biochemical basis of heterogeneity in acute presentations of propionic acidemia","volume":"28","author":"Sindgikar","year":"2013","journal-title":"Indian Journal of Clinical Biochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1035","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/00043426-200403000-00003","article-title":"Propionic acidemia with myelodysplasia and neutropenia in a Turkish child","volume":"26","author":"Sipahi","year":"2004","journal-title":"Journal of Pediatric Hematology\/Oncology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1040","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1111\/ajt.16400","article-title":"Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant","volume":"21","author":"Sivananthan","year":"2021","journal-title":"American Journal of Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1045","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1097\/AAP.0000000000000153","article-title":"Peripheral nerve block in a patient with propionic acidemia","volume":"39","author":"Soberon","year":"2014","journal-title":"Regional Anesthesia and Pain Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1050","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.clinthera.2010.04.004","article-title":"Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant","volume":"32","author":"Soyucen","year":"2010","journal-title":"Clinical Therapeutics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1055","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/s13023-021-01865-7","article-title":"Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance","volume":"16","author":"Stanescu","year":"2021","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1060","article-title":"Plasma CoQ10 status in patients with propionic acidaemia and possible benefit of treatment with ubiquinol","volume":"11","author":"Stanescu","year":"2022","journal-title":"Antioxidants (Basel)"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1256","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1007\/s00726-022-03128-6","article-title":"Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology","volume":"54","author":"Stanescu","year":"2022","journal-title":"Amino Acids"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1244","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1203\/00006450-199307000-00021","article-title":"Renal handling of carnitine in secondary carnitine deficiency disorders","volume":"34","author":"Stanley","year":"1993","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1243","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1172\/JCI109879","article-title":"Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia","volume":"66","author":"Stewart","year":"1980","journal-title":"Journal of Clinical Investigation"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1065","first-page":"16","article-title":"Impaired lipolysis in propionic acidemia: A new metabolic myopathy?","volume":"53","author":"Storgaard","year":"2020","journal-title":"JIMD Rep"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1070","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1203\/00006450-198608000-00017","article-title":"Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro","volume":"20","author":"Stork","year":"1986","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1075","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/jimd.12570","article-title":"Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia","volume":"46","author":"Subramanian","year":"2023","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1080","doi-asserted-by":"crossref","first-page":"227","DOI":"10.5582\/irdr.2016.01018","article-title":"Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy","volume":"5","author":"Sulaiman","year":"2016","journal-title":"Intractable & Rare Diseases Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1085","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/0887-8994(92)90085-D","article-title":"Neurologic outcome of propionic acidemia","volume":"8","author":"Surtees","year":"1992","journal-title":"Pediatric Neurology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1090","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ymgme.2011.08.034","article-title":"Chronic management and health supervision of individuals with propionic acidemia","volume":"105","author":"Sutton","year":"2012","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1095","doi-asserted-by":"crossref","DOI":"10.3390\/ijns7030035","article-title":"Current perspectives on neonatal screening for propionic acidemia in Japan: An unexpectedly high incidence of patients with mild disease caused by a common PCCB variant","volume":"7","author":"Tajima","year":"2021","journal-title":"International Journal of Neonatal Screening"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1236","doi-asserted-by":"crossref","first-page":"165586","DOI":"10.1016\/j.bbadis.2019.165586","article-title":"Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia","volume":"1866","author":"Tamayo","year":"2020","journal-title":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1100","doi-asserted-by":"crossref","first-page":"E883","DOI":"10.1503\/cmaj.180240","article-title":"Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man","volume":"190","author":"Tan","year":"2018","journal-title":"CMAJ"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1105","first-page":"1001","article-title":"Cytogenetic studies on myeloproliferative disorder","volume":"29","author":"Taniwaki","year":"1988","journal-title":"Rinsh\u014d Ketsueki"},{"issue":"Suppl","key":"10.1016\/j.pharmthera.2023.108501_bb1110","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/0387-7604(94)90097-3","article-title":"A study of the response to protein-modified diets for propionic acidemia in twelve patients","volume":"16","author":"Thomas","year":"1994","journal-title":"Brain Dev"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1115","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1203\/00006450-199004000-00021","article-title":"Increased urinary metabolite excretion during fasting in disorders of propionate metabolism","volume":"27","author":"Thompson","year":"1990","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1120","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1016\/0026-0495(90)90084-P","article-title":"Sources of propionate in inborn errors of propionate metabolism","volume":"39","author":"Thompson","year":"1990","journal-title":"Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1125","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1186\/s12884-020-03391-z","article-title":"Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation","volume":"20","author":"Tian","year":"2020","journal-title":"BMC Pregnancy and Childbirth"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1130","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1023\/A:1015464028616","article-title":"Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids","volume":"17","author":"Trindade","year":"2002","journal-title":"Metabolic Brain Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1135","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1203\/PDR.0b013e318179454b","article-title":"N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers","volume":"64","author":"Tuchman","year":"2008","journal-title":"Pediatric Research"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1140","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s13256-018-1631-1","article-title":"Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report","volume":"12","author":"Tummolo","year":"2018","journal-title":"Journal of Medical Case Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1145","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/s13023-016-0406-2","article-title":"Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study","volume":"11","author":"Valayannopoulos","year":"2016","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1150","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1002\/lt.22279","article-title":"Liver transplantation for propionic acidemia in children","volume":"17","author":"Vara","year":"2011","journal-title":"Liver Transplantation"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1257","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.freeradbiomed.2021.12.312","article-title":"An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy","volume":"179","author":"Vardar Acar","year":"2022","journal-title":"Free Radical Biology and Medicine"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1155","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1007\/s12311-009-0103-y","article-title":"Cerebellar hemorrhage in a patient with propionic acidemia","volume":"8","author":"Velasco-Sanchez","year":"2009","journal-title":"Cerebellum"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1160","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/8904_2013_237","article-title":"Chronic kidney disease in an adult with propionic acidemia","volume":"12","author":"Vernon","year":"2014","journal-title":"JIMD Reports"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1165","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/S0022-3476(05)80562-1","article-title":"Parenteral nutrition in propionic acidemia and methylmalonic acidemia","volume":"117","author":"Walter","year":"1990","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1170","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1186\/s12881-020-01102-1","article-title":"A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report","volume":"21","author":"Wang","year":"2020","journal-title":"BMC Medical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1175","doi-asserted-by":"crossref","first-page":"E622","DOI":"10.1152\/ajpendo.00081.2018","article-title":"Propionate-induced changes in cardiac metabolism, notably CoA trapping, are not altered by l-carnitine","volume":"315","author":"Wang","year":"2018","journal-title":"American Journal of Physiology. Endocrinology and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1180","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/ajmg.1320460423","article-title":"E. coli sepsis as a presenting sign in neonatal propionic acidemia","volume":"46","author":"Werlin","year":"1993","journal-title":"American Journal of Medical Genetics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1185","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/j.ajo.2008.12.024","article-title":"Late onset optic neuropathy in methylmalonic and propionic acidemia","volume":"147","author":"Williams","year":"2009","journal-title":"American Journal of Ophthalmology"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1190","doi-asserted-by":"crossref","first-page":"E413","DOI":"10.1152\/ajpendo.00105.2017","article-title":"Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism","volume":"313","author":"Wilson","year":"2017","journal-title":"American Journal of Physiology. Endocrinology and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1195","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.ymgme.2016.10.009","article-title":"Autism in patients with propionic acidemia","volume":"119","author":"Witters","year":"2016","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1200","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/S0022-3476(81)80004-2","article-title":"Propionic acidemia: a clinical update","volume":"99","author":"Wolf","year":"1981","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1205","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.ymgme.2004.01.003","article-title":"Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia","volume":"81","author":"Yang","year":"2004","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1210","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ymgme.2003.08.012","article-title":"Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food","volume":"80","author":"Yannicelli","year":"2003","journal-title":"Molecular Genetics and Metabolism"},{"key":"10.1016\/j.pharmthera.2023.108501_bib1254","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1023\/A:1025125427868","article-title":"Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome","volume":"26","author":"Yano","year":"2003","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1215","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1023\/B:BOLI.0000028778.54210.13","article-title":"Living-donor liver transplantation for propionic acidaemia","volume":"27","author":"Yorifuji","year":"2004","journal-title":"Journal of Inherited Metabolic Disease"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1220","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1067\/mpd.2000.108391","article-title":"Living-related liver transplantation for neonatal-onset propionic acidemia","volume":"137","author":"Yorifuji","year":"2000","journal-title":"The Journal of Pediatrics"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1225","first-page":"279","article-title":"Molecular cloning of rat acss3 and characterization of mammalian propionyl-CoA synthetase in the liver mitochondrial matrix","volume":"161","author":"Yoshimura","year":"2017","journal-title":"Journal of Biochemistry"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1230","first-page":"141","article-title":"Propionic acidemia: one case report","volume":"13","author":"Yuan","year":"1991","journal-title":"Zhongguo Yi Xue Ke Xue Yuan Xue Bao"},{"key":"10.1016\/j.pharmthera.2023.108501_bb1235","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1186\/s13023-022-02233-9","article-title":"Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia","volume":"17","author":"Zeng","year":"2022","journal-title":"Orphanet Journal of Rare Diseases"}],"container-title":["Pharmacology & Therapeutics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725823001651?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0163725823001651?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T22:35:48Z","timestamp":1759012548000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0163725823001651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":270,"alternative-id":["S0163725823001651"],"URL":"https:\/\/doi.org\/10.1016\/j.pharmthera.2023.108501","relation":{},"ISSN":["0163-7258"],"issn-type":[{"value":"0163-7258","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pathophysiological mechanisms of complications associated with propionic acidemia","name":"articletitle","label":"Article Title"},{"value":"Pharmacology & Therapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.pharmthera.2023.108501","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108501"}}