Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ-hydroxybutyric aciduria)

Developmental Medicine and Child Neurology

Volumn 46, Issue 8, 2004, Pages 564-568

  Philippe, A ^a   Deron, J ^a   Genevieve D ^a   de Lonlay, P ^a   Gibson, K M ^b   Rabier, D ^a   Munnich, A ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYBUTYRIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; 4 AMINOBUTYRIC ACID; ALDEHYDE DEHYDROGENASE; ALDH5A1 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CATABOLISM; CLINICAL FEATURE; COGNITIVE DEFECT; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DISEASE SEVERITY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HEARING; HUMAN; LEARNING DISORDER; MALE; MASS SPECTROMETRY; MEDICAL LITERATURE; MOTOR COORDINATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NARCOLEPSY; NERVE CELL DIFFERENTIATION; NEUROLOGIC DISEASE; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; PSYCHOSIS; RETROSPECTIVE STUDY; SEIZURE; SYMPTOM; URINALYSIS; ADOLESCENT; DEVELOPMENTAL DISORDER; INBORN ERROR OF METABOLISM; LANGUAGE DISABILITY; METABOLISM; PRESCHOOL CHILD; SIBLING; SLEEP DISORDER;

ADOLESCENT; ALDEHYDE OXIDOREDUCTASES; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; GAMMA-AMINOBUTYRIC ACID; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; METABOLISM, INBORN ERRORS; PSYCHOTIC DISORDERS; SIBLINGS; SLEEP DISORDERS; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 4043089170     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162204000933     Document Type: Article

References (24)

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