Results 221 to 230 of about 152,932 (290)

Substituting Tyr¹³⁸ in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation. [PDF]

FEBS Open Bio, 2017
Leandro J, Stokka AJ, Teigen K, Andersen OA, Flatmark T.   +4 more
europepmc   +1 more source

Neurological manifestations in an adult with phenylketonuria. [PDF]

Arch Med Sci
Sochań P, Białobrzewski M, Sochań PJ, Domitrz I.   +3 more
europepmc   +1 more source

Isozymes of Phenylalanine Hydroxylase [PDF]

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
Paul J. Geiger, John A. Barranger, A. Huzino, Samuel P. Bessman   +3 more
openaire   +2 more sources

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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
openaire   +5 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 " . . .
David M. Danks, Richard G.H. 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, Stephen J. Benkovic, Betty J. Gaffney   +2 more
openaire   +3 more sources

PHENYLALANINE-HYDROXYLASE ACTIVITY IN HYPERPHENYLALANINÆMIA

The Lancet, 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.
Parvin Justice, David Yi-Yung Hsia, MargaretE. O'Flynn   +2 more
openaire   +3 more sources