International database of tetrahydrobiopterin deficiencies

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 8-14

  Blau, N ^a   Barnes, I ^b   Dhondt, J L ^c  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNITED NATIONS ENVIRONMENT PROGRAMME WORLD CONSERVATION MONITORING CENTRE   (United Kingdom)

^c UNIVERSITÉ CATHOLIQUE DE LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; TETRAHYDROBIOPTERIN;

ARTICLE; CONSANGUINITY; DATA BASE; DIAGNOSTIC ACCURACY; DNA DETERMINATION; ENZYME DEFICIENCY; HUMAN; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INCIDENCE; NEWBORN; NEWBORN SCREENING; SAUDI ARABIA; TREATMENT OUTCOME;

AMINO ACID METABOLISM, INBORN ERRORS; BIOPTERIN; COMPUTER COMMUNICATION NETWORKS; DATA COLLECTION; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PHENYLALANINE; PTERINS; SOFTWARE; TERMINOLOGY;

EID: 0029962924     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799342     Document Type: Article

References (8)

1. Blau N (1988) Inborn errors of pterin metabolism. Annu Rev Nutr 9: 185-209.
2. Blau N, Thöny B, Heizmann CW, Dhondt JL (1993) Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4: 1-10.
3. Blau N, Ichinose H, Nagatsu T, Heizmann CW, Zacchello F, Burlina A (1995) A missense mutation in GTP cyclohydrolase I deficiency missed in the newborn screening program. J Pediatr 126: 401-406.
4. Dhondt JL (1991a) Register of Tetrahydrobiopterin Deficiencies. Milupa, Bagnelot.
5. Dhondt JL (1991b) Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenyl-aninaemic patients: 15-years experience. J Inher Metab Dis 14: 117-127.
6. Leeming RJ, Hall SK, Surplice IM, Green A (1990) Relationship between plasma and red cell biopterins in acute and chronic hyperphenylalaninaemia. J Inher Metab Dis 13: 883-887.
7. Ponzone A, Guardamagna O, Ferraris S, Ferrero GB, Dianzani I, Cotton RGH (1991) Tetrahydrobiopterin loading test in hyperphenylalaninemia. Pediatr Res 30: 435-438.
8. Scriver CR, Eisensmith RC, Woo SLC, Kaufman S (1994) The hyperphenylalaninemias of man and mouse. Annu, Rev Genet 28: 141-165.