Results 181 to 190 of about 538,734 (195)

Phenylalanine Hydroxylase Deficiency

2012
openaire   +1 more source

Phenylalanine Hydroxylase Deficiency

2005
openaire   +1 more source

II. PHENYLALANINE HYDROXYLASE DEFICIENCY

Acta Paediatrica, 1980
openaire   +1 more source

Phenylalanine Hydroxylase Activity in Riboflavin Deficient Rats

The Journal of Biochemistry, 1972
K, Shimomura, T, Fukushima, T, Danno
openaire   +3 more sources

Variations in genotype–phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population

Gene, 2013
Huiwen Zhang, Xuefan Gu, Tianwen Zhu
exaly  

Sapropterin Is Safe and Effective in Patients less than 4-Years-Old with BH4-Responsive Phenylalanine Hydroxylase Deficiency

Journal of Pediatrics, 2014
Haruo Shintaku, Toshihiro Ohura
exaly  

VI. DETECTION OF PHENYLALANINE HYDROXYLASE DEFICIENCY BY PHENYLALANINE LOADING.

Acta Paediatrica, 1980
openaire   +1 more source

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

American Journal of Human Genetics, 1998
Luc Michiels, Per Guldberg, Enrica Riva
exaly  

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China

Scandinavian Journal of Clinical and Laboratory Investigation, 2018
Zhan Zhang, Ying Shi, Zhan Zhang
exaly  

Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine
Curt Scharfe
exaly