Results 91 to 100 of about 109,987 (177)

Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3)

, 2001
Click on the DOI link below to access the article (may not be free).Phenylketonuria (PKU) is an inborn error of metabolism that is inherited in an autosomal recessive manner.
White, Gabriele, Haefele, Mark J., McDonald, J. David   +2 more
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Phenylalanine hydroxylase gene haplotypes in Polynesians: Evolutionary origins and absence of alleles associated with severe phenylketonuria

, 1989
Phenylalanine hydroxylase gene haplotypes in Polynesians: Evolutionary origins and absence of alleles associated with severe ...
KNP Mickleson (14576384), HHM Dahl (14574527), Julian Mercer (13076475), K Jahromi (14576378), V Ferguson (14576381), M Hertzberg (13404438), RJ Trent (14576387)   +6 more
core  

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Orphanet Journal of Rare Diseases
Background Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes.
Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring   +17 more
doaj   +1 more source

THE PURIFICATION AND CHARACTERIZATION OF PHENYLALANINE HYDROXYLASE

, 1972
Phenylketonuria is an inborn error of metabolism which usually results in severe mental retardation if untreated. Although neither a cure for phenylketonuria nor an adequate explanation of the associated mental retardation has been found, the retardation
SULLIVAN, DANIEL MAURICE
core  

Conventional Phenylketonuria Treatment

Journal of Inborn Errors of Metabolism and Screening, 2016
Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system.
Guillén-López Sara MS, RD, López-Mejía Lizbeth Alejandra RD, Ibarra-González Isabel MS, Vela-Amieva Marcela MD   +3 more
doaj   +1 more source

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. [PDF]

Mol Biol Rep, 2022
Zhou J, Zeng Y, Qiu X, Lin Q, Chen W, Luo J, Xu L.   +6 more
europepmc   +1 more source

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. [PDF]

Hum Genomics, 2023
Zhang C, Zhang P, Yan Y, Zhou B, Wang Y, Tian X, Hao S, Ma P, Zheng L, Zhang Q, Hui L, Wang Y, Cao Z, Ma X.   +13 more
europepmc   +1 more source

Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase

, 1990
Click on the link to access the article (may not be free).Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line.
Bode, Vernon C., Dove, W. F., Shedlovsky, Alexandra, McDonald, J. David   +3 more
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The Amino Acid Specificity for Activation of Phenylalanine Hydroxylase Matches the Specificity for Stabilization of Regulatory Domain Dimers

, 2015
Liver phenylalanine hydroxylase is allosterically activated by phenylalanine. The structural changes that accompany activation have not been identified, but recent studies of the effects of phenylalanine on the isolated regulatory domain of the enzyme ...
Shengnan Zhang (1340988), Andrew P. Hinck (1335081), Paul F. Fitzpatrick (1340982)   +2 more
core   +1 more source