Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

Movement Disorders

Volumn 26, Issue 1, 2011, Pages 157-161

  Opladen, Thomas ^a   Hoffmann, Georg ^a   Hörster, Friederike ^a   Hinz, Anne Bärbel ^b   Neidhardt, Katharina ^b   Klein, Christine ^c   Wolf, Nicole ^d  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b HELIOS KLINIKUM ERFURT   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive GTP cyclohydrolase I; Dopa responsive dystonia; Extrapyramidal movements; Hyperphenylalaninemia; Tetrahydrobiopterin; Truncal hyptonia

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; CARBIDOPA PLUS LEVODOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; NEOPTERIN; NEUROTRANSMITTER; TETRAHYDROBIOPTERIN;

5 HYDROXYINDOLEACETIC ACID BRAIN LEVEL; ABSENCE OF SIDE EFFECTS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DISEASE SEVERITY; DRUG DOSE REDUCTION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FOLLOW UP; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I DEFICIENCY; HETEROZYGOSITY; HUMAN; HYPERPHENYLALANINEMIA; INFANT; MALE; MOTOR RETARDATION; MUSCLE HYPOTONIA; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; WALKING;

ANTIPARKINSON AGENTS; CARBIDOPA; CHILD, PRESCHOOL; DEFICIENCY DISEASES; DRUG COMBINATIONS; FEMALE; FOLLOW-UP STUDIES; GTP CYCLOHYDROLASE; HUMANS; INFANT; LEVODOPA; MALE; MUTATION; NEUROTRANSMITTER AGENTS; PHENYLKETONURIAS;

EID: 79951478032     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23329     Document Type: Article

References (9)

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