Results 181 to 190 of about 24,432 (224)

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.

, 1993
Christoph Hauer, Igor Rebrin, Beat Thöny, F. Neuheiser, H.‐Ch. Curtius, Peter Hunziker, Nenad Blau, Sandro Ghisla, Claus W. Heizmann   +8 more
openalex   +1 more source

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

, 1996
Per Guldberg, Harvey L. Levy, WB Hanley, Richard Koch, Reuben Matalon, Bobbye Rouse, Friedrich K. Trefz, Felix de la Cruz, K. Henriksen, F. Güttler   +9 more
openalex   +1 more source

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

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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

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   +4 more sources