Treatable neurotransmitter deficiency in mild phenylketonuria

Neurology

Volumn 57, Issue 5, 2001, Pages 908-911

  Bonafe L ^a   Blau, N ^a   Burlina, A P ^b   Romstad, A ^c   Guttler F ^c   Burlina, Alberto B ^b,d  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF PADOVA   (Italy)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYTRYPTOPHAN; CARBIDOPA; LEVODOPA; PHENYLALANINE; TETRAHYDROBIOPTERIN; TYROSINE;

ADOLESCENT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; HUMAN; HYPERSALIVATION; MONOAMINE METABOLISM; NEUROLOGICAL COMPLICATION; PHENYLKETONURIA; PRIORITY JOURNAL;

EID: 0035845714     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.5.908     Document Type: Article

References (9)

1. Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
2. Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
3. Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the maternal phenylketonuria collaborative study
4. The neurochemistry of phenylketonuria
5. Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
6. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
7. Phenylalanine transport at the human blood-brain barrier
8. Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria
9. Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0 A resolution