Nonketotic hyperglycinemia (Glycine Encephalopathy): Laboratory diagnosis

Molecular Genetics and Metabolism

Volumn 74, Issue 1-2, 2001, Pages 139-146

  Applegarth, Derek A ^a   Toone, Jennifer R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Glycine cleavage complex; Glycine encephalopathy; H protein; Lipoamide dehydrogenase; NKH; Nonketotic hyperglycinemia; P protein; Prenatal diagnosis; Review; T protein

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE; GLYCINE; GLYCINE CLEAVAGE SYSTEM; H PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; HYPERGLYCINEMIA; MOLECULAR GENETICS; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0034788469     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3224     Document Type: Article

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