Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation

Annals of Neurology

Volumn 56, Issue 1, 2004, Pages 139-143

  Korman, Stanley H ^a   Boneh, Avihu ^a   Ichinohe, Akiko ^a   Kojima, Kanako ^a   Sato, Kenichi ^a   Ergaz, Zivanit ^a   Gomori, John M ^a   Gutman, Alisa ^a   Kure, Shigeo ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BENZOIC ACID DERIVATIVE; GLYCINE; KETAMINE;

ANIMAL CELL; APNEA; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLDC GENE; HUMAN; HYPERGLYCINEMIA; MALE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; PRIORITY JOURNAL; RESPIRATORY ACIDOSIS; SEQUENCE ANALYSIS; SYMPTOMATOLOGY;

ADULT; AMINO ACID OXIDOREDUCTASES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXCITATORY AMINO ACID ANTAGONISTS; FEMALE; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT, NEWBORN; KETAMINE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; PEDIGREE; POINT MUTATION; PROGNOSIS; RESPIRATION, ARTIFICIAL; SODIUM BENZOATE; TREATMENT OUTCOME;

EID: 3042717075     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20159     Document Type: Article

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