Concepedia

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

Steven F. Dobrowolski, Caroline Heintz, Trent Miller, Clinton Ellingson, Clifford C. Ellingson, İşıl Özer, Gülden Gökçay, T. Baykal, Beat Thöny, Mübeccel Demirkol,

Molecular Genetics and Metabolism · 2010 · 80 citations · 31 references

DOI

Concepts

References

31

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

Tetrahydrobiopterin biosynthesis, regeneration and functions

Beat Thöny, Günter Auerbach, Nenad Blau · Biochemical Journal · 2000 · 857 citations · Full text

, , +17

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

, , +6

Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria

Ania C. Muntau, Wulf Röschinger, Matthias Habich et al. · New England Journal of Medicine · 2002 · 305 citations · Full text

, , +13