Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
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Structure of the Homodimeric Glycine Decarboxylase P-protein from Synechocystis sp. PCC 6803 Suggests a Mechanism for Redox RegulationGlycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemiaNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseLysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literatureNovel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics.Quantitative model of R-loop forming structures reveals a novel level of RNA-DNA interactome complexity.Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaR-loopDB: a database for R-loop forming sequences (RLFS) and R-loops.The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Disruption of the glycine cleavage system enables Sinorhizobium fredii USDA257 to form nitrogen-fixing nodules on agronomically improved North American soybean cultivars.A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops).A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.Two novel missense mutations in nonketotic hyperglycinemia.Nonketotic hyperglycinemia: a cause of encephalopathy in children.
P2860
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P2860
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
@en
type
label
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
@en
prefLabel
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
@en
P2093
P2860
P356
P1476
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.
@en
P2093
Ayumi Narisawa
Fumiaki Kamada
Junko Kanno
Shigeo Kure
Tim Hutchin
Yoichi Matsubara
P2860
P356
10.1136/JMG.2006.043448
P407
P577
2007-03-01T00:00:00Z