{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T20:09:17Z","timestamp":1793909357913,"version":"4.8.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T00:00:00Z","timestamp":1583366400000},"content-version":"vor","delay-in-days":186,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","award":["255ONT"],"award-info":[{"award-number":["255ONT"]}],"id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","award":["BOP-149430"],"award-info":[{"award-number":["BOP-149430"]}],"id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000245","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008982","name":"Qatar National Research Fund","doi-asserted-by":"publisher","award":["275275"],"award-info":[{"award-number":["275275"]}],"id":[{"id":"10.13039\/100008982","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008982","name":"Qatar National Research Fund","doi-asserted-by":"publisher","award":["NPRP6-1463"],"award-info":[{"award-number":["NPRP6-1463"]}],"id":[{"id":"10.13039\/100008982","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002790","name":"Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002790","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009408","name":"Fondation Brain Canada","doi-asserted-by":"publisher","award":["PSG14-3505"],"award-info":[{"award-number":["PSG14-3505"]}],"id":[{"id":"10.13039\/100009408","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000038","name":"Natural Sciences and Engineering Research Council of Canada","doi-asserted-by":"publisher","award":["RGPIN 05389-14"],"award-info":[{"award-number":["RGPIN 05389-14"]}],"id":[{"id":"10.13039\/501100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002243","name":"National Ataxia Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008176","name":"Cummings Foundation","doi-asserted-by":"publisher","award":["26233"],"award-info":[{"award-number":["26233"]}],"id":[{"id":"10.13039\/100008176","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016062","name":"Stichting Metakids","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS048453"],"award-info":[{"award-number":["NS048453"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS098004"],"award-info":[{"award-number":["R01NS098004"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["301221"],"award-info":[{"award-number":["301221"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["40-45200-98-015"],"award-info":[{"award-number":["40-45200-98-015"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012280","name":"Rare Disease Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012280","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013114","name":"Broad Institute","doi-asserted-by":"publisher","award":["UM1HG008900"],"award-info":[{"award-number":["UM1HG008900"]}],"id":[{"id":"10.13039\/100013114","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016057","name":"E.C. Noyons Stichting","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.ajhg.2019.07.015","type":"journal-article","created":{"date-parts":[[2019,8,15]],"date-time":"2019-08-15T10:34:14Z","timestamp":1565865254000},"page":"534-548","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":84,"title":["Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy"],"prefix":"10.1016","volume":"105","author":[{"given":"Clara D.M.","family":"van Karnebeek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00faben J.","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Yan","family":"Wen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Tarailo-Graovac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G.","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Skrypnyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koroboshka","family":"Brand-Arzamendi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farhad","family":"Karbassi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Y.","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"van der Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt I.","family":"Dr\u00f6gem\u00f6ller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Koster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youdong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos","family":"Ruiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolita","family":"Ciapaite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo A.J.","family":"Kluijtmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith J.","family":"Jans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin J.","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth T.","family":"Wintjes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen C.D.G.","family":"Huigen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengping","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wyeth W.","family":"Wasserman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanda M.","family":"Verhoeven-Duif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2019.07.015_bib1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.jtbi.2008.05.033","article-title":"Role of the malate-aspartate shuttle on the metabolic response to myocardial ischemia","volume":"254","author":"Lu","year":"2008","journal-title":"J.\u00a0Theor. Biol."},{"key":"10.1016\/j.ajhg.2019.07.015_bib2","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1042\/bj1030514","article-title":"The redox state of free nicotinamide-adenine dinucleotide in the cytoplasm and mitochondria of rat liver","volume":"103","author":"Williamson","year":"1967","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2019.07.015_bib3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0968-0004(79)90417-1","article-title":"Oxidation of cytosolic NADH formed during aerobic metabolism in mammalian cells","volume":"4","author":"Dawson","year":"1979","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2019.07.015_bib4","doi-asserted-by":"crossref","first-page":"2794","DOI":"10.1016\/S0021-9258(19)61739-4","article-title":"The relation between intra- and extramitochondrial pyridine nucleotides","volume":"236","author":"Purvis","year":"1961","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2019.07.015_bib5","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1056\/NEJMoa0900591","article-title":"AGC1 deficiency associated with global cerebral hypomyelination","volume":"361","author":"Wibom","year":"2009","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2019.07.015_bib6","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s100380200046","article-title":"Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)","volume":"47","author":"Saheki","year":"2002","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib7","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ymgme.2011.08.022","article-title":"A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study","volume":"104","author":"Fiermonte","year":"2011","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ajhg.2019.07.015_bib8","first-page":"42","article-title":"Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia","volume":"1","author":"Hayasaka","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ajhg.2019.07.015_bib9","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.ajhg.2016.11.014","article-title":"Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy","volume":"100","author":"Ait-El-Mkadem","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib10","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.1923","article-title":"Fast gapped-read alignment with Bowtie 2","volume":"9","author":"Langmead","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2019.07.015_bib11","doi-asserted-by":"crossref","first-page":"2246","DOI":"10.1056\/NEJMoa1515792","article-title":"Exome Sequencing and the Management of Neurometabolic Disorders","volume":"374","author":"Tarailo-Graovac","year":"2016","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2019.07.015_bib12","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"10.1016\/j.ajhg.2019.07.015_bib13","doi-asserted-by":"crossref","first-page":"e0160519","DOI":"10.1371\/journal.pone.0160519","article-title":"Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine","volume":"11","author":"Jay","year":"2016","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2019.07.015_bib14","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1093\/molbev\/mst010","article-title":"MAFFT multiple sequence alignment software version 7: improvements in performance and usability","volume":"30","author":"Katoh","year":"2013","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.ajhg.2019.07.015_bib15","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1093\/bioinformatics\/btp033","article-title":"Jalview Version 2--a multiple sequence alignment editor and analysis workbench","volume":"25","author":"Waterhouse","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2019.07.015_bib16","doi-asserted-by":"crossref","first-page":"79","DOI":"10.5582\/bst.2015.01150","article-title":"Recombinant expression, purification and crystallographic studies of the mature form of human mitochondrial aspartate aminotransferase","volume":"10","author":"Jiang","year":"2016","journal-title":"Biosci. Trends"},{"key":"10.1016\/j.ajhg.2019.07.015_bib17","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1042\/BSR20100117","article-title":"Biochemical and structural characterization of mouse mitochondrial aspartate aminotransferase, a newly identified kynurenine aminotransferase-IV","volume":"31","author":"Han","year":"2011","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.ajhg.2019.07.015_bib18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nprot.2008.197","article-title":"Protein structure homology modeling using SWISS-MODEL workspace","volume":"4","author":"Bordoli","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2019.07.015_bib19","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2019.07.015_bib20","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/ejhg.2014.80","article-title":"SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors","volume":"23","author":"Renkema","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib21","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s10545-016-9935-z","article-title":"Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry","volume":"39","author":"Prinsen","year":"2016","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ajhg.2019.07.015_bib22","first-page":"2","article-title":"Forebrain electrophysiological recording in larval zebrafish","volume":"71","author":"Baraban","year":"2013","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2019.07.015_bib23","doi-asserted-by":"crossref","first-page":"e0186645","DOI":"10.1371\/journal.pone.0186645","article-title":"Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy\u00a0using CRISPR-Cas9 technology","volume":"12","author":"Zabinyakov","year":"2017","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2019.07.015_bib24","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib25","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2019.07.015_bib26","first-page":"20","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"Chapter 7","author":"Adzhubei","year":"2013","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib27","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2019.07.015_bib28","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1038\/ng.3578","article-title":"NANS-mediated synthesis of sialic acid is required for brain and skeletal development","volume":"48","author":"van Karnebeek","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1172\/jci.insight.122373","article-title":"Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function","volume":"3","author":"Wen","year":"2018","journal-title":"JCI Insight"},{"key":"10.1016\/j.ajhg.2019.07.015_bib30","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1016\/S0140-6736(18)30727-X","article-title":"Mitochondrial medicine in the omics era","volume":"391","author":"Rahman","year":"2018","journal-title":"Lancet"},{"key":"10.1016\/j.ajhg.2019.07.015_bib31","doi-asserted-by":"crossref","first-page":"18","DOI":"10.3390\/ijms18071384","article-title":"Inborn errors of metabolism and epilepsy: Current understanding, diagnosis, and treatment approaches","volume":"18","author":"Sharma","year":"2017","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2019.07.015_bib32","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1080\/17446651.2017.1273107","article-title":"Current knowledge for pyridoxine-dependent epilepsy: a 2016 update","volume":"12","author":"Pena","year":"2017","journal-title":"Expert Rev. Endocrinol. Metab."},{"key":"10.1016\/j.ajhg.2019.07.015_bib33","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/9667","article-title":"The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein","volume":"22","author":"Kobayashi","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.07.015_bib34","doi-asserted-by":"crossref","first-page":"e176","DOI":"10.1111\/epi.13193","article-title":"The ketogenic diet compensates for AGC1 deficiency and improves myelination","volume":"56","author":"Dahlin","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.ajhg.2019.07.015_bib35","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s00424-003-1099-7","article-title":"The mitochondrial transporter family (SLC25): physiological and pathological implications","volume":"447","author":"Palmieri","year":"2004","journal-title":"Pflugers Arch."},{"key":"10.1016\/j.ajhg.2019.07.015_bib36","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1042\/bj20021785","article-title":"L-serine in disease and development","volume":"371","author":"de Koning","year":"2003","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2019.07.015_bib37","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1007\/s10545-017-0061-3","article-title":"Vitamin B6 is essential for serine de novo biosynthesis","volume":"40","author":"Ramos","year":"2017","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"issue":"Suppl 2","key":"10.1016\/j.ajhg.2019.07.015_bib38","doi-asserted-by":"crossref","first-page":"S343","DOI":"10.1007\/s10545-008-0914-x","article-title":"Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate","volume":"31","author":"Mutoh","year":"2008","journal-title":"J.\u00a0Inherit. Metab. Dis."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929719302782?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929719302782?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:19:33Z","timestamp":1762078773000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929719302782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S0002929719302782"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2019.07.015","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2019.07.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2019","name":"copyright","label":"Copyright"}]}}