Methylenetetrahydrofolate reductase deficiency: Importance of early diagnosis

Journal of Child Neurology

Volumn 15, Issue 8, 2000, Pages 539-543

  Fattal Valevski, Aviva ^a   Bassan, Haim ^a   Korman, Stanley H ^b   Lerman Sagie, Tally ^c   Gutman, Alisa ^b   Harel, Shaul ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE;

APNEA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMA; DISEASE SEVERITY; DRUG EFFICACY; ENZYME DEFICIENCY; FOLATE METABOLISM; GROWTH RETARDATION; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; ONSET AGE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SEIZURE; TREATMENT OUTCOME;

BETAINE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FIBROBLASTS; FOLIC ACID; HEMATINICS; HOMOCYSTEINE; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; INFANT; LIPOTROPIC AGENTS; MALE; MENTAL RETARDATION; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; TREATMENT OUTCOME;

EID: 0033844741     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500808     Document Type: Article

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