Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man-Reference-Cited by-同舟云学术

Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening und study of biosynthesis in man

Published:1982-03 Issue:2 Volume:138 Page:110-112
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Niederwieser A.,Curtius H. -Ch.,Wang M.,Leupold D.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00441135.pdf

Reference26 articles.

1. Smith I, Clayton BE, Wolff OH (1975) New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. Lancet I:1108–1111

2. Bartholomé K (1974) A new molecular defect in phenylketonuria. Lancet II:1580

3. Kaufman S, Holtzman NA, Milstien S, Butler IJ, Krumholz A (1975) Phenylketonuria due to a deficiency of dihydropteridine reductase. New Eng J Med 293:785–790

4. Danks DM, Bartholomé K, Clayton BE, Curtius H-Ch, Gröbe H, Kaufman S, Leeming R, Pfleiderer W, Rembold H, Rey F (1978) Malignant hyperphenylalaninaemia—current status (June 1977). J Inher Metab Dis 1:49–53

5. Kaufman S, Berlow S, Summer GK, Milstien S, Schulman JD, Orloff S, Spielberg S, Pueschel S (1978) Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria. N Engl J Med 299:673–679

Cited by 82 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hyperphenylalaninemia, BH4 Deficient (HPABH4);Genetic Syndromes;2023

2. The impact of tetrahydrobiopterin administration on endothelial function before and after smoking cessation in chronic smokers;Hypertension Research;2015-11-26

3. The role of tetrahydrobiopterin and catecholamines in the developmental regulation of tyrosine hydroxylase level in the brain;Journal of Neurochemistry;2013-05-22

4. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria;Human Mutation;2013-05-01

5. Rapid clearance of supplemented tetrahydrobiopterin is driven by high-capacity transporters in the kidney;Molecular Genetics and Metabolism;2012-04