Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)

Brain and Development

Volumn 33, Issue 9, 2011, Pages 753-757

  Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

13C glycine breath test; Decarboxylation of glycine in vivo; Detection of large deletions in GLDC; The MLPA analysis

Indexed keywords

CARBON 13; DIAGNOSTIC AGENT; GENOMIC DNA; GLYCINE; GLYCINE C 13; GLYCINE CLEAVAGE SYSTEM; UNCLASSIFIED DRUG;

ENZYME ACTIVITY; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLYCINE BREATH TEST; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYBRIDIZATION; HYPERGLYCINEMIA; IN VIVO STUDY; ISOTOPE LABELING; LABORATORY TEST; METABOLIC ACIDOSIS; METHYLMALONIC ACIDEMIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PROTEIN DEGRADATION; REVIEW; SEQUENCE ANALYSIS; STOMACH EMPTYING;

BREATH TESTS; CARBON RADIOISOTOPES; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; MULTIPLEX POLYMERASE CHAIN REACTION;

EID: 80052504965     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.03.001     Document Type: Review

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