Succinic semialdehyde dehydrogenase deficiency: Decrease in 4-OH-butyric acid levels with low doses of vigabatrin;Déficit de succínico semialdehído deshidrogenasa. Disminución de los niveles de 4 OH butírico con dosis bajas de vigabatrina

Anales de Pediatria

Volumn 72, Issue 2, 2010, Pages 128-132

  Iglesias Escalera, G ^a   Ferrer, I ^b   Carrasco Marina, Ll ^a   Ruiz Sala, P ^b   Salomons, G S ^c   Jakobs, C ^c   Perez Cerda C ^b  

^a HOSPITAL SEVERO OCHOA   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

GABA metabolism; Gas chromatography mass spectrometry; Mutation analysis; Organic aciduria; Rare disease; Vigabatrin

Indexed keywords

4 HYDROXYBUTYRIC ACID; ALDH5A1 ENZYME; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; UNCLASSIFIED DRUG; VIGABATRIN;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE MUTATION; HUMAN; LANGUAGE DISABILITY; MALE; METABOLIC DISORDER; MOTOR COORDINATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY;

ADULT; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GABA AGENTS; GAMMA-AMINOBUTYRIC ACID; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; METABOLISM, INBORN ERRORS; MUSCLE HYPOTONIA; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE; VIGABATRIN;

EID: 75549091269     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1016/j.anpedi.2009.09.018     Document Type: Article

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