Atypical variants of nonketotic hyperglycinemia

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 61-69

  Dinopoulos, Argirios ^a   Matsubara, Yoichi ^b   Kure, Shigeo ^b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Atypical nonketotic hyperglycinemia; GLDC mutations; Glycine decarboxylase activity; Infantile NKH; Late onset NKH; Mild glycine encephalopathy

Indexed keywords

ARGININE; BENZOIC ACID; CARBOXYLYASE; DEXTROMETHORPHAN; FOLIC ACID; FOLINIC ACID; GLYCINE; GLYCINE CLEAVAGE SYSTEM; IMIPRAMINE; KETAMINE; METHIONINE; STRYCHNINE; TRYPTOPHAN;

AMT GENE; BEHAVIOR DISORDER; BLOOD LEVEL; CELL STRAIN COS7; CEREBROSPINAL FLUID LEVEL; CLINICAL FEATURE; COMPARATIVE STUDY; ENZYME ACTIVITY; GENE; GENE MUTATION; GENETIC ANALYSIS; GLDC GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERGLYCINEMIA; MENTAL DEFICIENCY; NONHUMAN; ONSET AGE; PATHOGENESIS; PATIENT; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN RESTRICTION; SHORT SURVEY; TREATMENT OUTCOME;

EID: 26244450017     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.016     Document Type: Review

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