{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T17:43:10Z","timestamp":1790962990607,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,2,17]],"date-time":"2019-02-17T00:00:00Z","timestamp":1550361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E\u2010HOD) international web\u2010based registry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This review comprises 238 patients (cobalamin C defect <jats:italic>n<\/jats:italic> =\u2009161; methylenetetrahydrofolate reductase deficiency <jats:italic>n<\/jats:italic> =\u200950; cobalamin G defect <jats:italic>n<\/jats:italic> =\u200911; cobalamin E defect <jats:italic>n<\/jats:italic> =\u200910; cobalamin D defect <jats:italic>n<\/jats:italic> = 5; and cobalamin J defect <jats:italic>n<\/jats:italic> = 1) from 47 centres for whom the E\u2010HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30\u2009days (range 1 day to 42\u2009years) and the median age at diagnosis was 3.7 months (range 3 days to 56\u2009years). Seventy\u2010five percent of pre\u2010clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15\u2009days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry\u2010based design.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12041","type":"journal-article","created":{"date-parts":[[2019,2,17]],"date-time":"2019-02-17T23:36:12Z","timestamp":1550446572000},"page":"333-352","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Phenotype, treatment practice and outcome in the cobalamin\u2010dependent remethylation disorders and MTHFR deficiency: Data from the E\u2010HOD registry"],"prefix":"10.1002","volume":"42","author":[{"given":"Martina","family":"Huemer","sequence":"first","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich University Z\u00fcrich  Z\u00fcrich Switzerland"},{"name":"Department of Pediatrics Landeskrankenhaus Bregenz  Bregenz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daria","family":"Diodato","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henk","family":"Blom","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine VU Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Gleich","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine Centre for Child and Adolescent Medicine  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"K\u00f6lker","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine Centre for Child and Adolescent Medicine  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktor","family":"Ko\u017eich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"Morris","sequence":"additional","affiliation":[{"name":"Willink Metabolic Unit, Genomic Medicine Manchester University Hospitals NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhardt","family":"Seifert","sequence":"additional","affiliation":[{"name":"Department of Biostatistics at Epidemiology, Biostatistics and Prevention Institute University Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Sean","family":"Froese","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich University Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Children's Research Center University Children's Hospital  Z\u00fcrich Switzerland"},{"name":"radiz\u2014Rare Disease Initiative Z\u00fcrich University Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the EHOD consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Alcalde","family":"Martin","sequence":"additional","affiliation":[{"name":"Hospital Universitario R\u00edo Hortega  Valladolid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Baethmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sozialp\u00e4diatrisches Zentrum, Klinikum Dritter Orden M\u00fcnchen\u2010Nymphenburg  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Ballhausen","sequence":"additional","affiliation":[{"name":"Center for Molecular Diseases University Hospital Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Blasco\u2010Alonso","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gastroenterolog\u00eda y Nutrici\u00f3n Pedi\u00e1trica Hospital Regional de M\u00e1laga  M\u00e1laga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolas","family":"Boy","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Metabolic Medicine Centre for Child and Adolescent Medicine  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bueno","sequence":"additional","affiliation":[{"name":"Hospital Universitario Virgen del Roc\u00edo  Sevilla Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Burgos Pel\u00e1ez","sequence":"additional","affiliation":[{"name":"Nutritional Support Unit University Hospital Vall d'Hebron  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Cerone","sequence":"additional","affiliation":[{"name":"University Department of Pediatrics Giannina Gaslini Institute  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Chabrol","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme CHU La Timone Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Chapman","sequence":"additional","affiliation":[{"name":"Children's National Rare Disease Institute Genetics and Metabolism  Washington, DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luz","family":"Couce","sequence":"additional","affiliation":[{"name":"Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of PediatricsHospital Cl\u00ednico Universitario de Santiago, CIBERER Health Research Institute of Santiago de Compostela (IDIS)  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Crushell","sequence":"additional","affiliation":[{"name":"National Centre for Inherited Metabolic Disorders Temple Street Children's University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime","family":"Dalmau Serra","sequence":"additional","affiliation":[{"name":"Unidad de Nutrici\u00f3n y Metabolopat\u00edas Hospital Universitario La Fe  Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Diogo","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doencas Heredit\u00e1rias do Metabolismo. Centro de Desenvolvimento da Crian\u00e7a \u2010 Hospital Pedi\u00e1trico \u2010 Centro Hospitalar e Universit\u00e1rio De Coimbra  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ficicioglu","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, The Children's Hospital of Philadelphia Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Concepcion","family":"Garc\u00eda Jimenez","sequence":"additional","affiliation":[{"name":"Hospital Infantil Miguel Servet  Zaragoza Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Garc\u00eda Silva","sequence":"additional","affiliation":[{"name":"Universitary Hospital 12 Octubre  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Maria","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Centro Academico de Medicina de Lisboa  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Gautschi","sequence":"additional","affiliation":[{"name":"Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and Metabolism University Children's Hospital and University Institute of Clinical Chemistry Inselspital  Berne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domingo","family":"Gonz\u00e1lez\u2010Lamu\u00f1o","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Marqu\u00e9s de Valdecilla, Universidad de Cantabria  Santander Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Gouveia","sequence":"additional","affiliation":[{"name":"Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of PediatricsHospital Cl\u00ednico Universitario de Santiago, CIBERER Health Research Institute of Santiago de Compostela (IDIS)  Santiago de Compostela Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Gr\u00fcnewald","sequence":"additional","affiliation":[{"name":"Institute for Child HealthGreat Ormond Street Hospital University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Hendriksz","sequence":"additional","affiliation":[{"name":"Salford Royal NHS Foundation Trust  Salford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian C. H.","family":"Janssen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Jesina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Charles University\u2014First Faculty of Medicine and General University Hospital  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Koch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassiliki","family":"Konstantopoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Medical University Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Lavigne","sequence":"additional","affiliation":[{"name":"M\u00e9decine Interne et Maladies Vasculaires Centre Hospitalier Universitaire Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan M.","family":"Lund","sequence":"additional","affiliation":[{"name":"Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esmeralda G.","family":"Martins","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases Centro Hospitalar do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Meavilla Olivas","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition Sant Joan de D\u00e9u Hospital  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Mention","sequence":"additional","affiliation":[{"name":"H\u00f4pital Jeanne de Flandre  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[{"name":"Reference Center for Adult Neurometabolic Diseases University Pierre and Marie Curie, La Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Mundy","sequence":"additional","affiliation":[{"name":"Evelina London Children's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Paquay","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Metabolic diseases department, Universit\u00e9 Catholique de Louvain, Cliniques Universitaires Saint\u2010Luc  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consuelo","family":"Pedr\u00f3n\u2010Giner","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Nutrition University Children's Hospital Ni\u00f1o Jes\u00fas  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Angeles","family":"Ruiz G\u00f3mez","sequence":"additional","affiliation":[{"name":"Metabolic Neuropediatric Unit University Hospital Son Espases  Palma de Mallorca Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saikat","family":"Santra","sequence":"additional","affiliation":[{"name":"Clinical Inherited Metabolic Disorders Birmingham Women's and Children's NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, AP\u2010HP, Robert Debr\u00e9 Hospital University Paris Diderot\u2010Sorbonne Paris Cit\u00e9 and INSERM U1141  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre and Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Scholl\u2010B\u00fcrgi","sequence":"additional","affiliation":[{"name":"Clinic for Pediatrics I Inherited Metabolic Disorders Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Servais","sequence":"additional","affiliation":[{"name":"Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP\u2010HP University Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Skouma","sequence":"additional","affiliation":[{"name":"Agia Sofia Children's Hospital 1st Department of Pediatrics University of Athens Thivon &amp; Levadias  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Molecular Diseases University Hospital Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inmaculada","family":"Vives Pi\u00f1era","sequence":"additional","affiliation":[{"name":"Hospital Universitario Virgen de la Arrixaca  El Palmar Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Walter","sequence":"additional","affiliation":[{"name":"Willink Metabolic Unit, Genomic Medicine Manchester University Hospitals NHS Foundation Trust  Manchester UK"},{"name":"Department of Paediatrics, Bradford Royal Infirmary  Bradford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Weisfeld\u2010Adams","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism University of Colorado Denver  Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22970"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9418-1"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M407733200"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9991-4"},{"key":"e_1_2_7_6_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Carrillo\u2010Carrasco N","year":"2013"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9687-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9839-3"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9840-x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)60820-4"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1683"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.11.005"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21107"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380001500808"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21001"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.021634"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.09.012"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.12281"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0969141316641149"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9365-x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005353530303"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3399-0"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-2581"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.4915"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.214"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9830-z"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2016.00027"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9161-z"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.107"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_11"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80114-8"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1257-y"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.007"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10499"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2125.2003.01717.x"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.13441"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.07.018"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9979-0"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2008.06.008"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.08.034"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810500481758"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31932"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.01.012"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-12947"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-873057"},{"key":"e_1_2_7_46_1","first-page":"554","article-title":"Early\u2010onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings","volume":"22","author":"Rossi A","year":"2001","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0579-3"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_517"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9120-8"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12041","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12041","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12041","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12041","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T15:36:24Z","timestamp":1694360184000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12041"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,17]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1002\/jimd.12041"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12041","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,17]]},"assertion":[{"value":"2019-02-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}