Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 2, 2010, Pages

  Dhondt, Jean Louis ^a  

^a Centre Hospitalier Saint Philibert GHICL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

5,6,7,8-TETRAHYDROBIOPTERIN; BIOLOGICAL MARKER; BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; DRUG DERIVATIVE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HYDROLYASE; PHENYLALANINE; PTERIDINE DERIVATIVE; PTERIN 4A CARBINOLAMINE DEHYDRATASE; PTERIN-4A-CARBINOLAMINE DEHYDRATASE; TETRAHYDROBIOPTERIN;

ARTICLE; BLOOD; HUMAN; INBORN ERROR OF METABOLISM; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PREDICTIVE VALUE; PROGNOSIS; URINE;

BIOLOGICAL MARKERS; BIOPTERIN; DIHYDROPTERIDINE REDUCTASE; GTP CYCLOHYDROLASE; HUMANS; HYDRO-LYASES; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS; PREDICTIVE VALUE OF TESTS; PROGNOSIS; PTERIDINES;

EID: 79952276391     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9091-9     Document Type: Article

References (8)

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2. Blau N (2006) Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. In: Blau N (ed) PKU and BH4: advances in Phenylketonuria and Tetrahydrobiopterin. SPS, Heilbronn, pp 555-567
3. Blau N, Dhondt JL (2006) BIODEF: International Database of tetrahydrobiopterin deficiencies.(http://www.biopku.org).
4. Blau N. (ed) PKU and BH4 : advances in Phenylketonuria and Tetrahydrobiopterin. SPS Publishing, Heilbronn, p 701-706
5. Curtius HCh, Kuster Th, Matasovic A, Blau N, Dhondt JL (1988). Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun 153:715-721
6. Dhondt JL (1991) Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients: 15 years experience. J Inherit Metab Dis 14:117-127
7. Dhondt JL (2006) Follow-up and outcome of tetrahydrobiopterin deficiencies. In: Blau N (ed) PKU and BH4: advances in Phenylketonuria and Tetrahydrobiopterin. SPS, Heilbronn, pp 652-677
8. Smith I, Clayton BE, Wolff OH (1975) A variant of phenylketonuria. Lancet 1:328-329