Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Neurology

Volumn 67, Issue 11, 2006, Pages 2032-2035

  Friedman, Jennifer ^a,b   Hyland, Keith ^c   Blau, Nenad ^d   MacCollin, Mia ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c Horizon Molecular Medicine   (United States)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; BACLOFEN; BENZATROPINE; BIOPTERIN; BROMOCRIPTINE; CARBIDOPA; CARBIDOPA PLUS LEVODOPA; CYTOKINE; DOPAMINE; MELATONIN; NEOPTERIN; SELEGILINE; SEPIAPTERIN REDUCTASE; SERTRALINE; TETRAHYDROBIOPTERIN; TRIHEXYPHENIDYL;

ADULT; AKATHISIA; ANAMNESIS; ARTICLE; CASE REPORT; CEREBRAL PALSY; CEREBROSPINAL FLUID ANALYSIS; CIRCADIAN RHYTHM; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; DISEASE EXACERBATION; DRUG COST; DRUG DOSE SEQUENCE; DRUG WITHDRAWAL; DYSKINESIA; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; GAIT DISORDER; HUMAN; HYPERSOMNIA; INTELLIGENCE QUOTIENT; MEDICAL EXAMINATION; MENARCHE; MENSTRUATION DISORDER; MISSENSE MUTATION; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OROFACIAL DYSKINESIA; PRIORITY JOURNAL; SEPIAPTERIN REDUCTASE DEFICIENCY; SIDE EFFECT; SLEEP PATTERN; SLEEP STAGE; TREATMENT RESPONSE;

ADULT; ALCOHOL OXIDOREDUCTASES; DISORDERS OF EXCESSIVE SOMNOLENCE; FEMALE; HUMANS; LEVODOPA; METABOLIC DISEASES; MOVEMENT DISORDERS;

EID: 33845709898     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000247274.21261.b4     Document Type: Article

References (10)

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