{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T20:19:44Z","timestamp":1793737184483,"version":"4.6.1"},"reference-count":134,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:00:00Z","timestamp":1742256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100026463","name":"Morton Community Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100026463","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD009024-1"],"award-info":[{"award-number":["HD009024-1"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1016\/j.ymgme.2025.109084","type":"journal-article","created":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T20:43:42Z","timestamp":1742330622000},"page":"109084","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated"],"prefix":"10.1016","volume":"145","author":[{"given":"Dakota J.S.J.","family":"Peacock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darius","family":"Ebrahimi-Fakhari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0005","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.ejpn.2009.11.005","article-title":"Movement disorders in neuro-metabolic diseases","volume":"14","author":"Gouider-Khouja","year":"2010","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"11","key":"10.1016\/j.ymgme.2025.109084_bb0010","doi-asserted-by":"crossref","DOI":"10.3390\/brainsci10110849","article-title":"Neuroimaging of basal ganglia in neurometabolic diseases in children","volume":"10","author":"Paprocka","year":"2020","journal-title":"Brain Sci."},{"issue":"10","key":"10.1016\/j.ymgme.2025.109084_bb0015","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1001\/jamaneurol.2018.1478","article-title":"Assessment of a targeted gene panel for identification of genes associated with movement disorders","volume":"75","author":"Montaut","year":"2018","journal-title":"JAMA Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0020","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.ymgme.2019.03.007","article-title":"Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders","volume":"127","author":"Ferreira","year":"2019","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0025","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/gim.2017.108","article-title":"Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism","volume":"20","author":"Lee","year":"2018","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0030","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/s41436-018-0022-8","article-title":"A proposed nosology of inborn errors of metabolism","volume":"21","author":"Ferreira","year":"2019","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0035","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0040","first-page":"127","article-title":"Acute ataxia in children: approach to clinical presentation and role of additional investigations","volume":"44","author":"Poretti","year":"2013","journal-title":"Neuropediatrics"},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0045","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.ymgme.2012.09.001","article-title":"Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype","volume":"107","author":"DeBrosse","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0050","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s10545-016-0011-5","article-title":"Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes","volume":"40","author":"Sofou","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0055","doi-asserted-by":"crossref","DOI":"10.1111\/ped.15385","article-title":"Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: identification of a novel mutation (p.T111I) in the PDHA1 gene","volume":"65","author":"Hayano","year":"2023","journal-title":"Pediatr. Int."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0060","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1002\/ana.24998","article-title":"Thiamine deficiency in childhood with attention to genetic causes: survival and outcome predictors","volume":"82","author":"Ortigoza-Escobar","year":"2017","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0065","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1186\/s13023-021-02028-4","article-title":"Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4","volume":"16","author":"Chen","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0070","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1055\/s-0040-1715631","article-title":"Thiamine treatment and favorable outcome in an infant with biallelic TPK1 variants","volume":"52","author":"Eckenweiler","year":"2021","journal-title":"Neuropediatrics"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0075","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1086\/431216","article-title":"Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3","volume":"77","author":"Zeng","year":"2005","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0080","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1055\/s-0040-1715628","article-title":"Thiamine pyrophosphokinase deficiency due to mutations in the TPK1 gene: a rare, treatable neurodegenerative disorder","volume":"52","author":"R\u00fcsch","year":"2021","journal-title":"Neuropediatrics"},{"issue":"Pt 2","key":"10.1016\/j.ymgme.2025.109084_bb0085","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1093\/brain\/awt339","article-title":"Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency","volume":"137","author":"El Euch-Fayache","year":"2014","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0090","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ejmg.2005.01.014","article-title":"Vitamin E deficiency ataxia with (744 del a) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients","volume":"48","author":"Marzouki","year":"2005","journal-title":"Eur. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0095","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/BF00710425","article-title":"Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up","volume":"18","author":"Amiel","year":"1995","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0100","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0022-3476(99)70424-5","article-title":"Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency","volume":"134","author":"Schuelke","year":"1999","journal-title":"J. Pediatr."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0105","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1046\/j.1468-1331.2001.00273.x","article-title":"Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency","volume":"8","author":"Gabsi","year":"2001","journal-title":"Eur. J. Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0110","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s10072-004-0246-z","article-title":"Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families","volume":"25","author":"Mariotti","year":"2004","journal-title":"Neurol. Sci."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0115","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1212\/CPJ.0000000000000399","article-title":"Recommendations for the detection and diagnosis of Niemann-pick disease type C: an update","volume":"7","author":"Patterson","year":"2017","journal-title":"Neurol. Clin. Pract."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0120","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/mdc3.12786","article-title":"Gelastic cataplexy in Niemann pick type C","volume":"6","author":"Yazdi","year":"2019","journal-title":"Mov. Disord. Clin. Pract."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0125","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s13023-019-1124-3","article-title":"Evaluation of different suspicion indices in identifying patients with Niemann-pick disease type C in clinical practice: a post hoc analysis of a retrospective chart review","volume":"14","author":"Pineda","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0130","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1186\/s13023-020-01363-2","article-title":"Treatment outcomes following continuous miglustat therapy in patients with Niemann-pick disease type C: a final report of the NPC registry","volume":"15","author":"Patterson","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0135","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1002\/jimd.12428","article-title":"Efficacy and safety of arimoclomol in Niemann-pick disease type C: results from a double-blind, randomised, placebo-controlled, multinational phase 2\/3 trial of a novel treatment","volume":"44","author":"Mengel","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0140","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1056\/NEJMoa2310151","article-title":"Trial of N-acetyl-l-leucine in Niemann-pick disease type C","volume":"390","author":"Bremova-Ertl","year":"2024","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0145","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.ymgme.2014.05.006","article-title":"Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach","volume":"112","author":"Frazier","year":"2014","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0150","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2024.108363","article-title":"Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency","volume":"142","author":"Tokatly Latzer","year":"2024","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0155","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1002\/jimd.12723","article-title":"The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency","volume":"47","author":"Julia-Palacios","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0160","first-page":"111","article-title":"Peroxisome biogenesis disorders","volume":"1","author":"Argyriou","year":"2016","journal-title":"Transl. Sci. Rare Dis."},{"key":"10.1016\/j.ymgme.2025.109084_bb0165","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s13023-015-0368-9","article-title":"Zellweger spectrum disorders: clinical overview and management approach","volume":"10","author":"Klouwer","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0170","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1136\/jmg.38.1.14","article-title":"A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases","volume":"38","author":"de Lonlay","year":"2001","journal-title":"J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0175","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.neurol.2013.09.005","article-title":"GLUT1 deficiency syndrome: an update","volume":"170","author":"Gras","year":"2014","journal-title":"Rev. Neurol. (Paris)"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0180","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1186\/s13023-022-02513-4","article-title":"Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases","volume":"17","author":"Olivotto","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0185","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/epi4.12414","article-title":"Glut1 deficiency syndrome (Glut1DS): state of the art in 2020 and recommendations of the international Glut1DS study group","volume":"5","author":"Klepper","year":"2020","journal-title":"Epilepsia Open."},{"issue":"7","key":"10.1016\/j.ymgme.2025.109084_bb0190","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: a consensus update","volume":"28","author":"Albanese","year":"2013","journal-title":"Mov. Disord."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0195","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1007\/s10545-009-1194-9","article-title":"Inborn errors of metabolism and motor disturbances in children","volume":"32","author":"Garc\u00eda-Cazorla","year":"2009","journal-title":"J. Inherit. Metab. Dis."},{"issue":"7","key":"10.1016\/j.ymgme.2025.109084_bb0200","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s11910-014-0461-9","article-title":"Clinical spectrum of dopa-responsive dystonia and related disorders","volume":"14","author":"Lee","year":"2014","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"10.1016\/j.ymgme.2025.109084_bb0205","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.wneu.2020.01.032","article-title":"Deep brain stimulation for the treatment of dopa-responsive dystonia: a case report and literature review","volume":"136","author":"Dong","year":"2020","journal-title":"World Neurosurg."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0210","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1007\/s10545-011-9289-5","article-title":"Diagnosis and management of glutaric aciduria type I--revised recommendations","volume":"34","author":"K\u00f6lker","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2025.109084_bb0215","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2017-223858","article-title":"Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder","volume":"2018","author":"Rangarh","year":"2018","journal-title":"BMJ Case Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0220","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ejpn.2003.12.007","article-title":"Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1","volume":"8","author":"Kyllerman","year":"2004","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0225","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1203\/01.pdr.0000219387.79887.86","article-title":"Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency","volume":"59","author":"K\u00f6lker","year":"2006","journal-title":"Pediatr. Res."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0230","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s13023-017-0612-6","article-title":"Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity","volume":"12","author":"Boy","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2025.109084_bb0235","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/B978-0-12-410502-7.00003-X","article-title":"Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes","volume":"110","author":"Kurian","year":"2013","journal-title":"Int. Rev. Neurobiol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0240","doi-asserted-by":"crossref","first-page":"583","DOI":"10.3174\/ajnr.A5514","article-title":"Looking deep into the eye-of-the-Tiger in Pantothenate kinase-associated neurodegeneration","volume":"39","author":"Lee","year":"2018","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2025.109084_bb0245","article-title":"Deep brain stimulation for pantothenate kinase-associated neurodegeneration","volume":"2015","author":"Garcia-Ruiz","year":"2015","journal-title":"Case Rep. Neurol. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0250","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/mds.1118","article-title":"Dystonia in Wilson\u2019s disease","volume":"16","author":"Svetel","year":"2001","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2025.109084_bb0255","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/B978-0-444-63625-6.00010-0","article-title":"Wilson disease: neurologic features","volume":"142","author":"Cz\u0142onkowska","year":"2017","journal-title":"Handb. Clin. Neurol."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2025.109084_bb0260","doi-asserted-by":"crossref","first-page":"S64","DOI":"10.21037\/atm.2019.02.43","article-title":"Neurologic impairment in Wilson disease","volume":"7","author":"Dusek","year":"2019","journal-title":"Ann. Transl. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0265","doi-asserted-by":"crossref","first-page":"268","DOI":"10.4103\/aian.aian_660_22","article-title":"Clinico-etiological Spectrum and functional outcomes of children with pre-status Dystonicus and status Dystonicus (SD): a descriptive study","volume":"26","author":"Joshi","year":"2023","journal-title":"Ann. Indian Acad. Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0270","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1034\/j.1600-0676.2003.00824.x","article-title":"Diagnosis and phenotypic classification of Wilson disease","volume":"23","author":"Ferenci","year":"2003","journal-title":"Liver Int."},{"key":"10.1016\/j.ymgme.2025.109084_bb0275","article-title":"A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases","author":"Schilsky","year":"2022","journal-title":"Hepatology"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0280","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.trsl.2009.05.002","article-title":"Treatment of Wilson\u2019s disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine","volume":"154","author":"Brewer","year":"2009","journal-title":"Transl. Res."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0285","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/mdc3.12237","article-title":"Methylmalonic aciduria: a treatable disorder of which adult neurologists need to be aware","volume":"3","author":"Tan","year":"2016","journal-title":"Mov. Disord. Clin. Pract."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0290","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/jimd.12370","article-title":"Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision","volume":"44","author":"Forny","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0295","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 J. Rare Dis."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0300","first-page":"161","article-title":"Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism","volume":"13","author":"Shapira","year":"1977","journal-title":"Isr. J. Med. Sci."},{"key":"10.1016\/j.ymgme.2025.109084_bb0305","series-title":"Handbook of Clinical Neurology","first-page":"173","article-title":"Movement disorders and mitochondrial disease","year":"2011"},{"issue":"19","key":"10.1016\/j.ymgme.2025.109084_bb0310","article-title":"A comprehensive approach to the diagnosis of leigh syndrome spectrum","volume":"14","author":"Baldo","year":"2024","journal-title":"Diagnostics (Basel)"},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0315","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jnnp-2012-304426","article-title":"A guide to diagnosis and treatment of Leigh syndrome","volume":"85","author":"Baertling","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"Pt 5","key":"10.1016\/j.ymgme.2025.109084_bb0320","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1093\/brain\/awt202","article-title":"Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder","volume":"137","author":"Fu","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2025.109084_bb0325","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1750-1172-2-48","article-title":"Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","volume":"2","author":"Torres","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"issue":"105847","key":"10.1016\/j.ymgme.2025.109084_bb0330","article-title":"Management of neurological symptoms in Lesch-Nyhan disease: a systematic review","volume":"165","author":"Krajewski","year":"2024","journal-title":"Neurosci. Biobehav. Rev."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109084_bb0335","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1111\/dmcn.14852","article-title":"Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient\u2019s perspective","volume":"63","author":"Visser","year":"2021","journal-title":"Dev. Med. Child Neurol."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0340","doi-asserted-by":"crossref","first-page":"135","DOI":"10.33588\/rn.7404.2021326","article-title":"Transient benign paroxysmal movement disorders in infancy","volume":"74","author":"Mosca","year":"2022","journal-title":"Rev. Neurol."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0345","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1002\/ana.24485","article-title":"Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia","volume":"78","author":"Swanson","year":"2015","journal-title":"Ann. Neurol."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0350","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ymgme.2011.02.009","article-title":"Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene","volume":"103","author":"Brunel-Guitton","year":"2011","journal-title":"Mol. Genet. Metab."},{"issue":"Suppl. 3","key":"10.1016\/j.ymgme.2025.109084_bb0355","first-page":"S85","article-title":"Inborn errors of metabolism in adults: two patients with movement disorders caused by Glutaric aciduria type 1","volume":"7","author":"Ulmanov\u00e1","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0360","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.brainresbull.2012.03.003","article-title":"Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics","volume":"88","author":"Shacka","year":"2012","journal-title":"Brain Res. Bull."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0365","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1177\/0883073819895694","article-title":"Review of Cerliponase alfa: recombinant human enzyme replacement therapy for late-infantile neuronal ceroid Lipofuscinosis type 2","volume":"35","author":"Lewis","year":"2020","journal-title":"J. Child Neurol."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0370","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","article-title":"POLG-related disorders and their neurological manifestations","volume":"15","author":"Rahman","year":"2019","journal-title":"Nat. Rev. Neurol."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0375","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1469-8749.2011.04214.x","article-title":"Mitochondrial disease and epilepsy","volume":"54","author":"Rahman","year":"2012","journal-title":"Dev. Med. Child Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0380","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1002\/mds.25839","article-title":"Myoclonus in mitochondrial disorders","volume":"29","author":"Mancuso","year":"2014","journal-title":"Mov. Disord."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0385","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1007\/s13311-013-0216-3","article-title":"Treatment of myoclonus","volume":"11","author":"Caviness","year":"2014","journal-title":"Neurotherapeutics"},{"issue":"9","key":"10.1016\/j.ymgme.2025.109084_bb0390","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1212\/WNL.0b013e31820e7b25","article-title":"POLG1 manifestations in childhood","volume":"76","author":"Isohanni","year":"2011","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0395","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1111\/j.1528-1167.2008.01546.x","article-title":"Clinical picture of EPM1-Unverricht-Lundborg disease","volume":"49","author":"K\u00e4lvi\u00e4inen","year":"2008","journal-title":"Epilepsia"},{"issue":"S2","key":"10.1016\/j.ymgme.2025.109084_bb0400","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1684\/epd.2016.0842","article-title":"Lafora disease","volume":"18","author":"Turnbull","year":"2016","journal-title":"Epileptic Disord."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0405","doi-asserted-by":"crossref","DOI":"10.3390\/biom12020173","article-title":"The key role of GM1 ganglioside in Parkinson\u2019s disease","volume":"12","author":"Chowdhury","year":"2022","journal-title":"Biomolecules"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0410","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/mdc3.12573","article-title":"The Spectrum of movement disorders in childhood-onset lysosomal storage diseases","volume":"5","author":"Ebrahimi-Fakhari","year":"2018","journal-title":"Mov. Disord. Clin. Pract."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0415","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.ajhg.2012.01.017","article-title":"Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease","volume":"90","author":"Quadri","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0420","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s00415-013-7187-5","article-title":"Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations","volume":"261","author":"Di Toro","year":"2014","journal-title":"J. Neurol."},{"issue":"12","key":"10.1016\/j.ymgme.2025.109084_bb0425","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/S1474-4422(19)30235-2","article-title":"Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches","volume":"18","author":"Shribman","year":"2019","journal-title":"Lancet Neurol."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0430","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.pediatrneurol.2012.03.016","article-title":"Clinical features and neurologic progression of hyperargininemia","volume":"46","author":"Carvalho","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2025.109084_bb0435","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13023-015-0242-9","article-title":"The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","volume":"10","author":"Martinelli","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2025.109084_bb0440","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-7-32","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders","volume":"7","author":"H\u00e4berle","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0445","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ymgme.2015.11.010","article-title":"Molybdenum cofactor deficiency","volume":"117","author":"Atwal","year":"2016","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0450","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/j.radcr.2018.02.025","article-title":"Molybdenum cofactor deficiency: neuroimaging findings","volume":"13","author":"Durmaz","year":"2018","journal-title":"Radiol Case Rep."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0460","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/jimd.12730","article-title":"Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies","volume":"47","author":"Schwahn","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"issue":"100","key":"10.1016\/j.ymgme.2025.109084_bb0465","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.biochi.2013.11.023","article-title":"Pathophysiology of X-linked adrenoleukodystrophy","volume":"98","author":"Berger","year":"2014","journal-title":"Biochimie"},{"issue":"21","key":"10.1016\/j.ymgme.2025.109084_bb0470","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1212\/WNL.0000000000201374","article-title":"International recommendations for the diagnosis and Management of Patients with Adrenoleukodystrophy: a consensus-based approach","volume":"99","author":"Engelen","year":"2022","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0475","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S1474-4422(22)00495-1","article-title":"Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-Centre, placebo-controlled phase 2-3 trial","volume":"22","author":"K\u00f6hler","year":"2023","journal-title":"Lancet Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0480","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1194\/jlr.S091827","article-title":"A perilous path: the inborn errors of sphingolipid metabolism","volume":"60","author":"Dunn","year":"2019","journal-title":"J. Lipid Res."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0485","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.ymgme.2017.12.432","article-title":"Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: volumetric quantitative MRI study","volume":"123","author":"Nestrasil","year":"2018","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0490","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/s41591-021-01664-4","article-title":"AAV gene therapy for Tay-Sachs disease","volume":"28","author":"Flotte","year":"2022","journal-title":"Nat. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0495","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.ymgme.2019.12.012","article-title":"The natural history of type 1 infantile GM1 gangliosidosis: a literature-based meta-analysis","volume":"129","author":"Lang","year":"2020","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.ymgme.2025.109084_bb0500","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1002\/jimd.12388","article-title":"Metachromatic leukodystrophy: a single-center longitudinal study of 45 patients","volume":"44","author":"Fumagalli","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0505","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1186\/s40001-024-01771-1","article-title":"The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review","volume":"29","author":"Chang","year":"2024","journal-title":"Eur. J. Med. Res."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0510","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s13023-019-1060-2","article-title":"Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers","volume":"14","author":"Harrington","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"issue":"12","key":"10.1016\/j.ymgme.2025.109084_bb0515","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1002\/acn3.51692","article-title":"Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy","volume":"9","author":"Schoenmakers","year":"2022","journal-title":"Ann. Clin. Transl. Neurol."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0520","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1080\/15513815.2018.1424277","article-title":"Gallbladder polyps in metachromatic leukodystrophy","volume":"37","author":"Almarzooqi","year":"2018","journal-title":"Fetal Pediatr. Pathol."},{"issue":"7","key":"10.1016\/j.ymgme.2025.109084_bb0525","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/j.jcyt.2024.03.487","article-title":"Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States","volume":"26","author":"Adang","year":"2024","journal-title":"Cytotherapy"},{"issue":"10322","key":"10.1016\/j.ymgme.2025.109084_bb0530","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/S0140-6736(21)02017-1","article-title":"Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1\/2 trial and expanded access","volume":"399","author":"Fumagalli","year":"2022","journal-title":"Lancet"},{"issue":"10043","key":"10.1016\/j.ymgme.2025.109084_bb0535","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/S0140-6736(16)30374-9","article-title":"Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1\/2 trial","volume":"388","author":"Sessa","year":"2016","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0540","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1186\/s13023-020-01489-3","article-title":"Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data","volume":"15","author":"Krieg","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"issue":"20","key":"10.1016\/j.ymgme.2025.109084_bb0545","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1056\/NEJMoa042604","article-title":"Transplantation of umbilical-cord blood in babies with infantile Krabbe\u2019s disease","volume":"352","author":"Escolar","year":"2005","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0550","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1148\/radiol.2353040716","article-title":"Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience","volume":"236","author":"McGraw","year":"2005","journal-title":"Radiology"},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0555","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1212\/01.wnl.0000230156.01228.33","article-title":"Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation","volume":"67","author":"Siddiqi","year":"2006","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0560","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-018-0766-x","article-title":"Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease","volume":"13","author":"Kwon","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0565","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/jon.12502","article-title":"Hematopoietic stem cell transplantation in late-onset Krabbe disease: no evidence of worsening demyelination and axonal loss 4 years post-allograft","volume":"28","author":"Laule","year":"2018","journal-title":"J. Neuroimaging"},{"issue":"12","key":"10.1016\/j.ymgme.2025.109084_bb0570","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1038\/gim.2016.35","article-title":"Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York state","volume":"18","author":"Wasserstein","year":"2016","journal-title":"Genet. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0575","doi-asserted-by":"crossref","DOI":"10.1016\/j.omtm.2024.101357","article-title":"Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders","volume":"32","author":"Zhou","year":"2024","journal-title":"Mol. Ther. Methods Clin. Dev."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0580","doi-asserted-by":"crossref","first-page":"W315","DOI":"10.2214\/AJR.13.11154","article-title":"Inborn errors of metabolism: combining clinical and radiologic clues to solve the mystery","volume":"203","author":"Ibrahim","year":"2014","journal-title":"AJR Am. J. Roentgenol."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0585","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.braindev.2015.12.007","article-title":"The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: a multicenter study of 19 patients","volume":"38","author":"Sumida","year":"2016","journal-title":"Brain Dev."},{"issue":"8","key":"10.1016\/j.ymgme.2025.109084_bb0590","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1212\/01.wnl.0000343049.00540.c8","article-title":"Invited article: an MRI-based approach to the diagnosis of white matter disorders","volume":"72","author":"Schiffmann","year":"2009","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0595","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.spen.2012.09.007","article-title":"Patterns of brain injury in inborn errors of metabolism","volume":"19","author":"Gropman","year":"2012","journal-title":"Semin. Pediatr. Neurol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0600","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/dmcn.14721","article-title":"Groningen movement disorder expertise Centre. Diagnostic approach to paediatric movement disorders: a clinical practice guide","volume":"63","author":"Brandsma","year":"2021","journal-title":"Dev. Med. Child Neurol."},{"issue":"21","key":"10.1016\/j.ymgme.2025.109084_bb0605","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1056\/NEJMoa2314761","article-title":"Genome sequencing for diagnosing rare diseases","volume":"390","author":"Wojcik","year":"2024","journal-title":"N. Engl. J. Med."},{"issue":"17","key":"10.1016\/j.ymgme.2025.109084_bb0610","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1056\/NEJMoa2209046","article-title":"Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland","volume":"388","author":"Wright","year":"2023","journal-title":"N. Engl. J. Med."},{"issue":"4","key":"10.1016\/j.ymgme.2025.109084_bb0615","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1007\/s10545-015-9872-2","article-title":"Ketogenic diets in patients with inherited metabolic disorders","volume":"38","author":"Scholl-B\u00fcrgi","year":"2015","journal-title":"J. Inherit. Metab. Dis."},{"issue":"20","key":"10.1016\/j.ymgme.2025.109084_bb0620","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","article-title":"Study of intraventricular Cerliponase alfa for CLN2 disease","volume":"378","author":"Schulz","year":"2018","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0625","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.ymthe.2021.11.005","article-title":"Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency","volume":"30","author":"Tai","year":"2022","journal-title":"Mol. Ther."},{"issue":"1","key":"10.1016\/j.ymgme.2025.109084_bb0630","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1038\/s41467-021-24524-8","article-title":"Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons","volume":"12","author":"Pearson","year":"2021","journal-title":"Nat. Commun."},{"issue":"17","key":"10.1016\/j.ymgme.2025.109084_bb0635","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1056\/NEJMoa1700554","article-title":"Hematopoietic stem-cell gene therapy for cerebral Adrenoleukodystrophy","volume":"377","author":"Eichler","year":"2017","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ymgme.2025.109084_bb0640","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nbt.2884","article-title":"Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype","volume":"32","author":"Yin","year":"2014","journal-title":"Nat. Biotechnol."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0645","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/nbt.3471","article-title":"Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo","volume":"34","author":"Yin","year":"2016","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ymgme.2025.109084_bb0650","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms12642","article-title":"Reprogramming metabolic pathways in vivo with CRISPR\/Cas9 genome editing to treat hereditary tyrosinaemia","volume":"7","author":"Pankowicz","year":"2016","journal-title":"Nat. Commun."},{"issue":"342","key":"10.1016\/j.ymgme.2025.109084_bb0655","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aad8166","article-title":"A universal system to select gene-modified hepatocytes in vivo","volume":"8","author":"Nygaard","year":"2016","journal-title":"Sci. Transl. Med."},{"issue":"3","key":"10.1016\/j.ymgme.2025.109084_bb0660","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1038\/nbt.3469","article-title":"A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice","volume":"34","author":"Yang","year":"2016","journal-title":"Nat. Biotechnol."},{"issue":"15","key":"10.1016\/j.ymgme.2025.109084_bb0665","doi-asserted-by":"crossref","first-page":"1777","DOI":"10.1182\/blood-2014-12-615492","article-title":"In vivo genome editing of the albumin locus as a platform for protein replacement therapy","volume":"126","author":"Sharma","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.ymgme.2025.109084_bb0670","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymthe.2024.08.009","article-title":"Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy","author":"Jones","year":"2024","journal-title":"Mol. Ther."},{"issue":"2","key":"10.1016\/j.ymgme.2025.109084_bb0675","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/mds.28874","article-title":"Relationship of genotype, phenotype, and treatment in Dopa-responsive dystonia: MDSGene review","volume":"37","author":"Weissbach","year":"2022","journal-title":"Mov. Disord."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225000757?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719225000757?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T03:39:14Z","timestamp":1771558754000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719225000757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":134,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["S1096719225000757"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109084","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2025.109084","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"109084"}}