Results 171 to 180 of about 104,062 (224)

Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis. [PDF]

Online J Public Health Inform
Yang S, Song K, Chen Q, Jiang J, Wang L.
europepmc   +1 more source

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency

Acta Paediatrica, 2002
The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study.
E. Verduci, E. Riva, C. Agostoni, S. Leviti, L. Fiori, A.M. Lammardo, M. L. Biondi, M. Giovannini   +7 more
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PHENYLALANINE-HYDROXYLASE ACTIVITY IN HYPERPHENYLALANINÆMIA

Lancet, The, 1967
Abstract Phenylalanine-hydroxylase activities have been determined in two cases of " classic " phenylketonuria and in two cases of hyperphenylalaninaemia without phenylketonuria. The patients with phenylketonuria showed no phenylalanine-hydroxylase activity; and this was confirmed as being due to deficiency of enzyme, not cofactor.
David Yi-Yung Hsia, D Y Hsia, Parvin Justice   +2 more
exaly   +3 more sources

Influence of amino acids on rat liver phenylalanine hydroxylase activity

American Journal of Physiology, 1964
The influence of oral and of injected amino acids on rat liver phenylalanine hydroxylase activity has been studied in both short-term and extended experiments.
Harry A Waisman, R A Freedland, H A Waisman   +2 more
exaly   +2 more sources

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency [PDF]

Genetics in Medicine, 2014
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago.
Jerry Vockley, Patricia Splett, Kathryn Moseley   +2 more
exaly   +2 more sources

Phenylalanine hydroxylase deficiency

Genetics in Medicine, 2011
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild ...
John J, Mitchell, Yannis J, Trakadis, Charles R, Scriver   +2 more
openaire   +3 more sources

Phenylalanine Hydroxylase Activity

Archives of Pediatrics & Adolescent Medicine, 1983
Sir .—In the article, "Diagnosis of Phenylalanine Hydroxylase Deficiency (Phenylketonuria)" (Journal1982;136:111-114), we are concerned by the recommendation of Berry and collegues that centers treating patients with phenylketonuria (PKU) should " . . .
D M, Danks, R G, Cotton
openaire   +2 more sources

Characterization of phenylalanine hydroxylase

Biochemistry, 1986
Iron can be bound to phenylalanine hydroxylase (PAH) in two environments. The assignment of the electron paramagnetic resonance spectrum of PAH to two, overlapping high-spin ferric signals is confirmed by computer simulation. Both environments are shown to be populated in the crude enzyme.
L M, Bloom, S J, Benkovic, B J, Gaffney
openaire   +2 more sources

Isozymes of Phenylalanine Hydroxylase

Science, 1972
Three isozymes of phenylalanine hydroxylase exist in adult rat liver. They are chromatographically unique. Partial characterization suggests that they are similar in chemical properties and differ only in charge. Estimation of the Stokes radii indicates that the isozymes have similar molecular weights of about 200,000. Two isozymes exist in human fetal
J A, Barranger, P J, Geiger, A, Huzino, S P, Bessman   +3 more
openaire   +2 more sources