Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
Identifieur interne : 001896 ( PubMed/Curation ); précédent : 001895; suivant : 001897Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
Auteurs : Gurusidheshwar M. Wali ; Beat Thony ; Nenad BlauSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Alcohol Oxidoreductases (cerebrospinal fluid), Alcohol Oxidoreductases (deficiency), Brain (pathology), Cerebral Palsy (enzymology), Cerebral Palsy (epidemiology), Cerebral Palsy (genetics), Child, Chromosomes, Human, Pair 2 (genetics), Cognition Disorders (diagnosis), Cognition Disorders (epidemiology), Disorders of Excessive Somnolence (diagnosis), Disorders of Excessive Somnolence (epidemiology), Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Metabolism, Inborn Errors (drug therapy), Metabolism, Inborn Errors (epidemiology), Metabolism, Inborn Errors (genetics), Neuropsychological Tests, Severity of Illness Index, Siblings, Videotape Recording.
- MESH :
- chemical , cerebrospinal fluid : Alcohol Oxidoreductases.
- chemical , deficiency : Alcohol Oxidoreductases.
- diagnosis : Cognition Disorders, Disorders of Excessive Somnolence.
- drug therapy : Metabolism, Inborn Errors.
- enzymology : Cerebral Palsy.
- epidemiology : Cerebral Palsy, Cognition Disorders, Disorders of Excessive Somnolence, Metabolism, Inborn Errors.
- genetics : Cerebral Palsy, Chromosomes, Human, Pair 2, Metabolism, Inborn Errors.
- pathology : Brain.
- Child, Electroencephalography, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Severity of Illness Index, Siblings, Videotape Recording.
DOI: 10.1002/mds.23032
PubMed: 20222129
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