{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:08:39Z","timestamp":1771603719695,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2011,6,1]],"date-time":"2011-06-01T00:00:00Z","timestamp":1306886400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2011,6]]},"DOI":"10.1016\/j.ymgme.2011.02.009","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T04:59:06Z","timestamp":1298437146000},"page":"193-196","source":"Crossref","is-referenced-by-count":25,"title":["Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene"],"prefix":"10.1016","volume":"103","author":[{"given":"Catherine","family":"Brunel-Guitton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett","family":"Casey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Coulter-Mackie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilary","family":"Vallance","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Hewes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia","family":"Stockler-Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadet","family":"Mercimek-Mahmutoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2011.02.009_bb0005","series-title":"The Online Metabolic and Molecular Bases of Inherited Disease","article-title":"Nonketotic hyperglycinemia","author":"Hamosh","year":"2009"},{"key":"10.1016\/j.ymgme.2011.02.009_bb0010","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/0006-291X(91)91545-N","article-title":"Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia","volume":"174","author":"Kure","year":"1991","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0015","first-page":"351","article-title":"The glycine cleavage system structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias","volume":"48","author":"Koyata","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0020","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1006\/bbrc.1993.1480","article-title":"Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system","volume":"192","author":"Hayasaka","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0025","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1159\/000133081","article-title":"Localization of the human dihydrolipoamide dehydrogenase gene (DLD) to 7q31\u2013q32","volume":"56","author":"Scherer","year":"1991","journal-title":"Cytogenet. Cell Genet."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0030","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1006\/mgme.2001.3224","article-title":"Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis","volume":"74","author":"Applegarth","year":"2001","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0035","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1006\/mgme.2000.3000","article-title":"Biochemical and molecular investigations of patients with nonketotic hyperglycinemia","volume":"70","author":"Toone","year":"2000","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0040","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":"Dinopoulos","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0045","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.20293","article-title":"Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia","volume":"27","author":"Kure","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0050","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1023\/A:1005690611675","article-title":"Treatment of late-onset nonketotic hyperglycinemia: effectiveness of imipramine and benzoate","volume":"23","author":"Wiltshire","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0055","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.pediatrneurol.2007.05.016","article-title":"Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course","volume":"37","author":"Chiong","year":"2007","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0060","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/S0022-3476(87)80399-2","article-title":"Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases","volume":"110","author":"Hayasaka","year":"1987","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0065","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/mds.10681","article-title":"Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy","volume":"19","author":"Hall","year":"2004","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0070","doi-asserted-by":"crossref","first-page":"641","DOI":"10.2169\/internalmedicine.32.641","article-title":"Blindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to date","volume":"32","author":"Tanaka","year":"1993","journal-title":"Intern. Med."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0075","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/S0022-3476(79)80211-5","article-title":"Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration","volume":"94","author":"Steiman","year":"1979","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0080","first-page":"1068","article-title":"Late-onset nonketotic hyperglycinemia: a case report","volume":"54","author":"Hasegawa","year":"2002","journal-title":"No Shinkei"},{"key":"10.1016\/j.ymgme.2011.02.009_bb0085","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF01811489","article-title":"Juvenile non-ketotic hyperglycinemia in three siblings","volume":"2","author":"Cole","year":"1985","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0090","first-page":"21","article-title":"Familial neuromuscular disease with nonketotic hyperglycinemia","volume":"96","author":"Bank","year":"1971","journal-title":"Trans. Am. Neurol. Assoc."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0095","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1177\/088307389901400710","article-title":"Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio","volume":"14","author":"Jackson","year":"1999","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0100","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1212\/WNL.39.2.286","article-title":"Nonketotic hyperglycinemia: studies in an atypical variant","volume":"39","author":"Singer","year":"1989","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2011.02.009_bb0105","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":"Nakai","year":"2005","journal-title":"EMBO J."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0110","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":"Korman","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0115","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/hmg\/ddi120","article-title":"Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5\u2032-phosphate oxidase","volume":"14","author":"Mills","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0120","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1177\/088307389901401108","article-title":"Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter","volume":"14","author":"van der Knaap","year":"1999","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0125","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1177\/08830738060210101001","article-title":"Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizures","volume":"21","author":"Lin","year":"2006","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0130","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.pediatrneurol.2010.05.025","article-title":"A novel missense mutation in a neonate with nonketotic hyperglycinemia","volume":"43","author":"Meyer","year":"2010","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0135","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1523\/JNEUROSCI.22-06-02335.2002","article-title":"Lower sensitivity to stress and altered monoaminergic neuronal function in mice lacking the NMDA receptor epsilon 4 subunit","volume":"22","author":"Miyamoto","year":"2002","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0140","first-page":"777","article-title":"Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays","volume":"132","author":"Frazier","year":"1978","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0145","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S0022-3476(96)70399-2","article-title":"Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations","volume":"128","author":"Steiner","year":"1996","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2011.02.009_bb0150","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/S0022-3476(05)81550-1","article-title":"Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts","volume":"123","author":"Christodoulou","year":"1993","journal-title":"J. Pediatr."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211000527?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719211000527?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,6,8]],"date-time":"2019-06-08T15:39:54Z","timestamp":1560008394000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719211000527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["S1096719211000527"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2011.02.009","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}