{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T06:10:46Z","timestamp":1772172646112,"version":"3.50.1"},"update-to":[{"DOI":"10.1371\/journal.pcbi.1007871","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000}}],"reference-count":68,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T00:00:00Z","timestamp":1589760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.ploscompbiol.org"],"crossmark-restriction":false},"short-container-title":["PLoS Comput Biol"],"DOI":"10.1371\/journal.pcbi.1007871","type":"journal-article","created":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T14:47:34Z","timestamp":1589813254000},"page":"e1007871","update-policy":"https:\/\/doi.org\/10.1371\/journal.pcbi.corrections_policy","source":"Crossref","is-referenced-by-count":18,"title":["Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity"],"prefix":"10.1371","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-8334","authenticated-orcid":true,"given":"Joseph","family":"Farris","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1929-4208","authenticated-orcid":true,"given":"Barbara","family":"Calhoun","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6853-1006","authenticated-orcid":true,"given":"Md. Suhail","family":"Alam","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9305-2050","authenticated-orcid":true,"given":"Shaun","family":"Lee","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5065-158X","authenticated-orcid":true,"given":"Kasturi","family":"Haldar","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2020,5,18]]},"reference":[{"key":"pcbi.1007871.ref001","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.spen.2018.02.003","article-title":"Movement Disorders and Neurometabolic Diseases.","volume":"25","author":"CK Christensen","year":"2018","journal-title":"Semin Pediatr Neurol"},{"issue":"3","key":"pcbi.1007871.ref002","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1046\/j.1528-1157.43.s.3.11.x","article-title":"Neonatal seizures and syndromes","volume":"43","author":"BR Tharp","year":"2002","journal-title":"Epilepsia"},{"issue":"1","key":"pcbi.1007871.ref003","first-page":"1","article-title":"Approach to neurometabolic diseases from a pediatric neurological point of view","volume":"9","author":"P Karimzadeh","year":"2015","journal-title":"Iran J child Neurol"},{"key":"pcbi.1007871.ref004","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1038\/nrc3557","article-title":"Serine, glycine and one-carbon units: cancer metabolism in full circle","volume":"13","author":"JW Locasale","year":"2013","journal-title":"Nat Rev"},{"key":"pcbi.1007871.ref005","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.cell.2011.11.050","article-title":"Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis","volume":"148","author":"WC Zhang","year":"2012","journal-title":"Cell"},{"key":"pcbi.1007871.ref006","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nature14363","article-title":"SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance","volume":"520","author":"D Kim","year":"2015","journal-title":"Nature"},{"key":"pcbi.1007871.ref007","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cmet.2016.08.009","article-title":"One-Carbon Metabolism in Health and Disease.","volume":"25","author":"GS Ducker","year":"2017","journal-title":"Cell Metabolism"},{"key":"pcbi.1007871.ref008","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/gim.2016.74","article-title":"The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT","volume":"19","author":"CR Coughlin","year":"2017","journal-title":"Genet Med"},{"issue":"5","key":"pcbi.1007871.ref009","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/j.1399-0004.1979.tb01773.x","article-title":"Nonketotic hyperglycinemia. A genetic study of 13 Finnish families","volume":"15","author":"L von Wendt","year":"1979","journal-title":"Clin Genet"},{"issue":"1","key":"pcbi.1007871.ref010","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1172\/JCI115831","article-title":"Identification of a common mutation in finnish patients with nonketotic hyperglycinemia","volume":"90","author":"S Kure","year":"1992","journal-title":"J Clin Invest"},{"key":"pcbi.1007871.ref011","unstructured":"Indiana Genetics Advisory Committee. Meeting Minutes April 13, 2010. 2010 Apr 13 [Cited 15 Nov 2019] In: in.gov [Internet]. The State of Indiana 2010. Available from: https:\/\/www.in.gov\/isdh\/files\/IGAC_Meeting_Minutes_-_April_2010.pdf"},{"key":"pcbi.1007871.ref012","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s10545-011-9398-1","article-title":"Prediction of long-term outcome in glycine encephalopathy: A clinical survey","volume":"35","author":"JB Hennermann","year":"2012","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"pcbi.1007871.ref013","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":"MA Swanson","year":"2015","journal-title":"Ann Neurol"},{"issue":"6","key":"pcbi.1007871.ref014","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1002\/humu.23208","article-title":"Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease","volume":"38","author":"I Bravo-Alonso","year":"2017","journal-title":"Hum Mutat"},{"issue":"49","key":"pcbi.1007871.ref015","doi-asserted-by":"crossref","first-page":"35333","DOI":"10.1074\/jbc.M113.509976","article-title":"Structure of the homodimeric glycine decarboxylase P-protein from synechocystis sp. PCC 6803 suggests a mechanism for redox regulation","volume":"288","author":"D Hasse","year":"2013","journal-title":"J Biol Chem"},{"key":"pcbi.1007871.ref016","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1186\/1471-2105-10-273","article-title":"The B6 database: A tool for the description and classification of vitamin B6-dependent enzymatic activities and of the corresponding protein families","volume":"10","author":"R Percudani","year":"2009","journal-title":"BMC Bioinformatics"},{"issue":"8","key":"pcbi.1007871.ref017","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/sj.emboj.7600632","article-title":"Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia","volume":"24","author":"T Nakai","year":"2005","journal-title":"EMBO J"},{"issue":"11","key":"pcbi.1007871.ref018","doi-asserted-by":"crossref","first-page":"2992","DOI":"10.1110\/ps.04938104","article-title":"Evolutionarily conserved regions and hydrophobic contacts at the superfamily level: The case of the fold-type I, pyridoxal-5\u2032-phosphate-dependent enzymes","volume":"13","author":"A Paiardini","year":"2004","journal-title":"Protein Sci"},{"issue":"5","key":"pcbi.1007871.ref019","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1002\/pro.5560040520","article-title":"Aminolevulinate synthase: lysine 313 is not essential for binding the pyridoxal phosphate cofactor but is essential for catalysis","volume":"4","author":"GC Ferreira","year":"1995","journal-title":"Protein Sci"},{"key":"pcbi.1007871.ref020","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1021\/bi4014227","article-title":"Glycine decarboxylase is an unusual amino acid decarboxylase involved in tumorigenesis","volume":"53","author":"MK Go","year":"2014","journal-title":"Biochemistry"},{"issue":"2","key":"pcbi.1007871.ref021","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/0003-9861(79)90267-4","article-title":"Hydrogen carrier protein from chicken liver: Purification, characterization, and role of its prosthetic group, lipoic acid, in the glycine cleavage reaction","volume":"197","author":"K Fujiwara","year":"1979","journal-title":"Arch Biochem Biophys"},{"issue":"6","key":"pcbi.1007871.ref022","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1021\/ci8000315","article-title":"Protein surface conservation in binding sites.","volume":"48","author":"N Carl","year":"2008","journal-title":"J Chem Inf Model."},{"issue":"24","key":"pcbi.1007871.ref023","doi-asserted-by":"crossref","first-page":"18684","DOI":"10.1074\/jbc.M110.110718","article-title":"Crystal structure of aminomethyltransferase in complex with dihydrolipoyl-H-protein of the glycine cleavage system: Implications for recognition of lipoyl protein substrate, disease-related mutations, and reaction mechanism","volume":"285","author":"K Okamura-Ikeda","year":"2010","journal-title":"J Biol Chem"},{"issue":"9","key":"pcbi.1007871.ref024","article-title":"Structure based thermostability prediction models for protein single point mutations with machine learning tools","volume":"10","author":"L Jia","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"pcbi.1007871.ref025","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0121511","article-title":"A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo Syndrome).","volume":"10","author":"KG Ugrinov","year":"2015","journal-title":"PLoS One"},{"issue":"4","key":"pcbi.1007871.ref026","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1006\/mgme.2001.3158","article-title":"Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH).","volume":"72","author":"JR Toone","year":"2001","journal-title":"Mol Genet Metab"},{"key":"pcbi.1007871.ref027","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1212\/01.WNL.0000156800.23776.40","article-title":"Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults","volume":"64","author":"A Dinopoulos","year":"2005","journal-title":"Neurology"},{"key":"pcbi.1007871.ref028","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/ana.20159","article-title":"Persistent NKH with Transient or Absent Symptoms and a Homozygous GLDC Mutation","volume":"56","author":"SH Korman","year":"2004","journal-title":"Ann Neurol"},{"issue":"1","key":"pcbi.1007871.ref029","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s10545-006-0202-6","article-title":"Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy","volume":"29","author":"C Conter","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"S1","key":"pcbi.1007871.ref030","doi-asserted-by":"crossref","first-page":"S162","DOI":"10.1002\/elps.200900140","article-title":"Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: A historical perspective","volume":"30","author":"N Guex","year":"2009","journal-title":"Electrophoresis"},{"issue":"D1","key":"pcbi.1007871.ref031","doi-asserted-by":"crossref","first-page":"D313","DOI":"10.1093\/nar\/gkw1132","article-title":"The SWISS-MODEL Repository\u2014new features and functionality","volume":"45","author":"S Bienert","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"W1","key":"pcbi.1007871.ref032","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"A Waterhouse","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"7616","key":"pcbi.1007871.ref033","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"M Lek","year":"2016","journal-title":"Nature"},{"key":"pcbi.1007871.ref034","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/nar\/gks372","article-title":"COFACTOR: an accurate comparative algorithm for structure-based protein function annotation","volume":"40","author":"A Roy","year":"2012","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"pcbi.1007871.ref035","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/nar\/gkx366","article-title":"COFACTOR: improved protein function prediction by combining structure, sequence and protein-protein interaction information","volume":"45","author":"C Zhang","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"12","key":"pcbi.1007871.ref036","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/prot.24403","article-title":"How Good is Automated Protein Docking?","volume":"81","author":"D Kozakov","year":"2013","journal-title":"Proteins"},{"issue":"2","key":"pcbi.1007871.ref037","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/nprot.2016.169","article-title":"The ClusPro web server for protein-protein docking.","volume":"12","author":"D Kozakov","year":"2017","journal-title":"Nat Protoc."},{"issue":"3","key":"pcbi.1007871.ref038","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/prot.25219","article-title":"New Additions to the ClusPro Server Motivated by CAPRI","volume":"85","author":"S Vajda","year":"2017","journal-title":"Proteins"},{"key":"pcbi.1007871.ref039","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ijch.201200096","article-title":"ConSurf: Using Evolutionary Data to Raise Testable Hypotheses about Protein Function","volume":"53","author":"G Celniker","year":"2013","journal-title":"Isr J Chem"},{"issue":"W1","key":"pcbi.1007871.ref040","doi-asserted-by":"crossref","first-page":"W344","DOI":"10.1093\/nar\/gkw408","article-title":"ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules.","volume":"44","author":"H Ashkenazy","year":"2016","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"pcbi.1007871.ref041","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1093\/bioinformatics\/bth070","article-title":"ConSeq: the identification of functionally and structurally important residues in protein sequences","volume":"20","author":"C Berezin","year":"2004","journal-title":"Bioinformatics"},{"issue":"5","key":"pcbi.1007871.ref042","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.jmb.2005.06.056","article-title":"Crystal Structure of Human T-protein of Glycine Cleavage System at 2.0\u00c5 Resolution and its Implication for Understanding Non-ketotic Hyperglycinemia","volume":"351","author":"K Okamura-Ikeda","year":"2005","journal-title":"J Mol Biol"},{"issue":"4","key":"pcbi.1007871.ref043","doi-asserted-by":"crossref","first-page":"e1006478","DOI":"10.1371\/journal.pcbi.1006478","article-title":"Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.","volume":"15","author":"G Minervini","year":"2019","journal-title":"PLOS Comput Biol."},{"issue":"4","key":"pcbi.1007871.ref044","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0195971","article-title":"Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms","volume":"13","author":"M Seifi","year":"2018","journal-title":"PLoS One"},{"issue":"Suppl 8","key":"pcbi.1007871.ref045","doi-asserted-by":"crossref","first-page":"S8","DOI":"10.1186\/1471-2105-10-S8-S8","article-title":"Correlating protein function and stability through the analysis of single amino acid substitutions","volume":"10","author":"Y Bromberg","year":"2009","journal-title":"BMC Bioinformatics"},{"key":"pcbi.1007871.ref046","article-title":"Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.","volume":"1","author":"MP Kava","year":"2018","journal-title":"Eur J Clin Nutr"},{"issue":"10","key":"pcbi.1007871.ref047","first-page":"1087","article-title":"Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene","volume":"19","author":"TJ Jiang","year":"2017","journal-title":"Chinese J Contemp Pediatr"},{"issue":"03","key":"pcbi.1007871.ref048","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1055\/s-0032-1313914","article-title":"A Known and a Novel Mutation in the Glycine Decarboxylase Gene in a Newborn with Classic Nonketotic Hyperglycinemia","volume":"43","author":"P Beijer","year":"2012","journal-title":"Neuropediatrics"},{"issue":"2","key":"pcbi.1007871.ref049","doi-asserted-by":"crossref","first-page":"131","DOI":"10.17712\/nsj.2017.2.20160468","article-title":"A novel mutation in the Glycine decarboxylase gene in patient with non-ketotic hyperglycinemia","volume":"22","author":"E Kose","year":"2017","journal-title":"Neurosciences"},{"issue":"6","key":"pcbi.1007871.ref050","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1177\/0883073814535499","article-title":"Two Novel Missense Mutations in Nonketotic Hyperglycinemia","volume":"30","author":"BS Yilmaz","year":"2015","journal-title":"J Child Neurol"},{"issue":"1","key":"pcbi.1007871.ref051","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1177\/0883073812471432","article-title":"A novel glycine decarboxylase gene mutation in an indian family with nonketotic hyperglycinemia","volume":"29","author":"JM Love","year":"2014","journal-title":"J Child Neurol"},{"issue":"7","key":"pcbi.1007871.ref052","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1212\/01.WNL.0000156800.23776.40","article-title":"Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults","volume":"64","author":"A Dinopoulos","year":"2005","journal-title":"Neurology"},{"issue":"7","key":"pcbi.1007871.ref053","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.braindev.2017.03.005","article-title":"Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.","volume":"39","author":"W Khraim","year":"2017","journal-title":"Brain Dev"},{"issue":"1\u20132","key":"pcbi.1007871.ref054","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ymgme.2005.07.016","article-title":"Atypical variants of nonketotic hyperglycinemia","volume":"86","author":"A Dinopoulos","year":"2005","journal-title":"Mol Genet Metab"},{"issue":"1","key":"pcbi.1007871.ref055","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/ana.20159","article-title":"Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation","volume":"56","author":"SH Korman","year":"2004","journal-title":"Ann Neurol"},{"key":"pcbi.1007871.ref056","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.jpeds.2015.12.027","article-title":"Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia","volume":"170","author":"KJ Bjoraker","year":"2016","journal-title":"J Pediatr"},{"issue":"1","key":"pcbi.1007871.ref057","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.braindev.2011.01.005","article-title":"Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia","volume":"34","author":"Y Tsuyusaki","year":"2012","journal-title":"Brain Dev"},{"issue":"3","key":"pcbi.1007871.ref058","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.pediatrneurol.2010.04.018","article-title":"Nonketotic hyperglycinemia: Proposal of a diagnostic and treatment strategy","volume":"43","author":"Y Suzuki","year":"2010","journal-title":"Pediatr Neurol"},{"issue":"5","key":"pcbi.1007871.ref059","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.pediatrneurol.2006.06.009","article-title":"Valproate-Induced Chorea and Encephalopathy in Atypical Nonketotic Hyperglycinemia","volume":"35","author":"PF Morrison","year":"2006","journal-title":"Pediatr Neurol"},{"issue":"6","key":"pcbi.1007871.ref060","first-page":"827","article-title":"Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: Mutational and in vitro expression analyses in two patients","volume":"144","author":"S Kure","year":"2004","journal-title":"J Pediatr"},{"issue":"11","key":"pcbi.1007871.ref061","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1038\/jhg.2014.69","article-title":"Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy","volume":"59","author":"NAA Azize","year":"2014","journal-title":"J Hum Genet"},{"issue":"4","key":"pcbi.1007871.ref062","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/s11011-013-9415-1","article-title":"Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase","volume":"28","author":"S Kanekar","year":"2013","journal-title":"Metab Brain Dis"},{"issue":"10","key":"pcbi.1007871.ref063","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.braindev.2018.06.007","article-title":"Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center","volume":"40","author":"\u00c7 Gen\u00e7 Sel","year":"2018","journal-title":"Brain Dev"},{"issue":"6","key":"pcbi.1007871.ref064","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.pediatrneurol.2012.03.002","article-title":"Two novel missense mutations observed in nonketotic hyperglycinemia","volume":"46","author":"IA Yoon","year":"2012","journal-title":"Pediatr Neurol"},{"issue":"2","key":"pcbi.1007871.ref065","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/ana.20759","article-title":"Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation","volume":"59","author":"SH Korman","year":"2006","journal-title":"Ann Neurol"},{"issue":"2","key":"pcbi.1007871.ref066","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":"C Brunel-Guitton","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"4","key":"pcbi.1007871.ref067","first-page":"e225","article-title":"Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report","volume":"115","author":"S Liu","year":"2017","journal-title":"Arch Argent Pediatr"},{"issue":"1","key":"pcbi.1007871.ref068","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s12881-017-0517-1","article-title":"A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia","volume":"19","author":"Y Lin","year":"2018","journal-title":"BMC Med Genet"}],"updated-by":[{"DOI":"10.1371\/journal.pcbi.1007871","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000}}],"container-title":["PLOS Computational Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pcbi.1007871","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T19:48:58Z","timestamp":1722887338000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pcbi.1007871"}},"subtitle":[],"editor":[{"given":"Yanay","family":"Ofran","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2020,5,18]]},"references-count":68,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2020,5,18]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pcbi.1007871","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2019.12.20.884080","asserted-by":"object"}]},"ISSN":["1553-7358"],"issn-type":[{"value":"1553-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,18]]}}}