Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Movement Disorders

Volumn 25, Issue 7, 2010, Pages 954-955

  Wali, Gurusidheshwar M ^a   Thony, Beat ^b   Blau, Nenad ^b  

^a Neuro Specialities Centre   (India)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CARBIDOPA PLUS LEVODOPA; GENOMIC DNA; SEPIAPTERIN REDUCTASE;

BLOOD ANALYSIS; CASE REPORT; CEREBRAL PALSY; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; DRUG DOSE REDUCTION; DYSKINESIA; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HYPERSOMNIA; INBORN ERROR OF METABOLISM; INFANT; INFANTILE HYPOTONIA; INTELLIGENCE QUOTIENT; LETTER; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOGYRIC CRISIS; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEPIAPTERIN REDUCTASE DEFICIENCY; SIBLING; SPASTICITY;

ALCOHOL OXIDOREDUCTASES; BRAIN; CEREBRAL PALSY; CHILD; CHROMOSOMES, HUMAN, PAIR 2; COGNITION DISORDERS; DISORDERS OF EXCESSIVE SOMNOLENCE; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; METABOLISM, INBORN ERRORS; NEUROPSYCHOLOGICAL TESTS; SEVERITY OF ILLNESS INDEX; SIBLINGS; VIDEOTAPE RECORDING;

EID: 77951968117     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23032     Document Type: Letter

References (5)

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3. Bonafe L, Thony B, Penzien JM, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin dependent monoamine neurotransmitter deficiency without hyperphenylalninemia. Am J Hum Genet 2001;69:269-277. (Pubitemid 32695200)
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