Isolated remethylation disorders: Do our treatments benefit patients?

Journal of Inherited Metabolic Disease

Volumn 34, Issue 1, 2011, Pages 137-145

  Schiff, Manuel ^a   Benoist, Jean François ^a   Tilea, Bogdana ^a   Royer, Nicolas ^a   Giraudier, Stéphane ^b   Ogier De Baulny, Hélène ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; FOLIC ACID; FOLINIC ACID; HYDROXOCOBALAMIN; METHIONINE; METHIONINE SYNTHASE; METHIONINE SYNTHASE REDUCTASE; 5 METHYLTETRAHYDROFOLATE HOMOCYSTEINE METHYLTRANSFERASE; FERREDOXIN NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE REDUCTASE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

CHILD DEVELOPMENT; CLINICAL FEATURE; CONVALESCENCE; EARLY INTERVENTION; EMERGENCY TREATMENT; ENZYME DEFICIENCY; HEMATOLOGIC DISEASE; HUMAN; LONG TERM CARE; MENTAL DEFICIENCY; METHIONINE SYNTHASE DEFICIENCY; METHIONINE SYNTHASE REDUCTASE DEFICIENCY; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MICROCEPHALY; NEUROLOGIC DISEASE; REVIEW; SPINAL CORD ATROPHY; THROMBOEMBOLISM; TREATMENT OUTCOME; ADOLESCENT; ADULT; BIOLOGICAL MODEL; CASE REPORT; EVALUATION; HOMOCYSTINURIA; INBORN ERROR OF METABOLISM; METHYLATION; NEWBORN; PSYCHOSIS; RISK ASSESSMENT; SPASTICITY;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADOLESCENT; ADULT; FERREDOXIN-NADP REDUCTASE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; METHYLATION; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MODELS, BIOLOGICAL; MUSCLE SPASTICITY; PSYCHOTIC DISORDERS; RISK ASSESSMENT;

EID: 79955812377     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9120-8     Document Type: Review

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