Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia. Hallmarks of sepiapterin reductase deficiency

Neurology

Volumn 78, Issue 5, 2012, Pages

  Dill, P ^a   Wagner, M ^a   Somerville, A ^a   Thony B ^b,c,d   Blau, N ^b,c,d   Weber, P ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d Research Center for Children (RCC)   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; BENSERAZIDE PLUS LEVODOPA; CARBIDOPA PLUS LEVODOPA; LEVODOPA; MELATONIN; OMEPRAZOLE; SELEGILINE; SEPIAPTERIN REDUCTASE; SERTRALINE; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; ALCOHOL DEHYDROGENASE; BENSERAZIDE; BENSERAZIDE, LEVODOPA DRUG COMBINATION; DOPAMINE RECEPTOR STIMULATING AGENT;

ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHOREA; CLINICAL FEATURE; COGNITIVE DEFECT; DISTRACTIBILITY; DRUG WITHDRAWAL; DYSKINESIA; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FEMALE; GASTROESOPHAGEAL REFLUX; GAZE; HUMAN; HYPERACTIVITY; HYPERSOMNIA; HYPERTRANSAMINASEMIA; INFANT; LABORATORY TEST; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEPIAPTERIN REDUCTASE DEFICIENCY; TREATMENT RESPONSE; VOMITING; BEHAVIOR; CEREBROSPINAL FLUID; CONSANGUINITY; DEVELOPMENTAL DISORDER; DRUG COMBINATION; ENZYMOLOGY; EYE MOVEMENT; GENETICS; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PHENYLKETONURIA; PHYSIOLOGY; TREATMENT OUTCOME;

5-HYDROXYTRYPTOPHAN; ALCOHOL OXIDOREDUCTASES; BEHAVIOR; BENSERAZIDE; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DOPAMINE AGENTS; DRUG COMBINATIONS; EYE MOVEMENTS; FEMALE; HUMANS; INFANT; LEVODOPA; MOVEMENT DISORDERS; MUSCLE HYPOTONIA; NERVOUS SYSTEM DISEASES; NEUROTRANSMITTER AGENTS; PHENYLKETONURIAS; TREATMENT OUTCOME;

EID: 84858052269     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182452849     Document Type: Article

References (10)

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