Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers-Reference-Cited by-同舟云学术

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

Published:1988-01 Issue:1 Volume:147 Page:15-19
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Shintaku H.,Niederwieser A.,Leimbacher W.,Curtius H. -Ch.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00442604.pdf

Reference26 articles.

1. Curtius HC, Heintel D, Ghisla S, Kuster T, Leimbacher W, Niederwieser A (1985) Tetrahydrobiopterin biosynthesis: studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved. Eur J Biochem 148:413?419

2. Dhondt JL (1984) Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr 104:501?508

3. Fukushima T, Nixon JC (1980) Analysis of reduced forms of biopterin in biological tissues and fluids. Anal Biochem 102:176?188

4. Güttler F, Lou H, Lykkelund C, Niederwieser A (1984) Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis. Eur J Pediatr 142:126?129

5. Hreidarsson S, Valle D, Kapatos N, Kaufman S (1982) Peripheral defect in biopterin synthesis: a new mutant? Pediatr Res 16:192A

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