Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

Pediatric Neurology

Volumn 35, Issue 5, 2006, Pages 308-313

  Echenne, Bernard ^a,b   Roubertie, Agathe ^a   Assmann, Birgit ^c,d   Lutz, Thomas ^d   Penzien, Johann M ^e   Thöny, Beat ^f   Blau, Nenad ^f   Hoffmann, Georg F ^d  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE SHERBROOKE   (Canada)

^c UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e Klinik fur Kinder/Jugendmedizin   (Germany)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; CARBIDOPA PLUS LEVODOPA; DIHYDROBIOPTERIN; LEVODOPA; NEOPTERIN; NEUROTRANSMITTER; SEPIAPTERIN REDUCTASE;

ADOLESCENT; ANAMNESIS; ARTICLE; BRAIN DISEASE; CASE REPORT; CEREBRAL PALSY; CEREBROSPINAL FLUID; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILDHOOD; CHILDHOOD DISEASE; CLINICAL FEATURE; CLINICAL STUDY; DISEASE EXACERBATION; EARLY DIAGNOSIS; ELECTROCHEMICAL ANALYSIS; ENZYME DEFICIENCY; FEMALE; FLUOROMETRY; FOLLOW UP; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMOBILIZATION; LONG TERM CARE; MAINTENANCE DRUG DOSE; MALE; NEUROLOGIC DISEASE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SCHOOL CHILD; SEPIAPTERIN REDUCTASE DEFICIENCY; SIDE EFFECT; THERAPY EFFECT; TREATMENT OUTCOME;

5-HYDROXYTRYPTOPHAN; ADOLESCENT; ALCOHOL OXIDOREDUCTASES; ANTIDEPRESSIVE AGENTS, SECOND-GENERATION; CARBIDOPA; CHILD; DOPAMINE AGENTS; DRUG ADMINISTRATION SCHEDULE; DRUG THERAPY, COMBINATION; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEVODOPA; MALE; METABOLISM, INBORN ERRORS; TREATMENT OUTCOME;

EID: 33750349964     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.05.006     Document Type: Article

References (11)

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