Results 121 to 130 of about 538,734 (195)

Diagnosis of Phenylketonuria (Phenylalanine Hydroxylase Deficiency, Temporary and Permanent) [PDF]

BMJ, 1967
J B, Stephenson, M S, McBean
openaire   +2 more sources

Fenylketonurie - genetický podklad, symptomy, diagnostika a možnosti léčby

, 2016
Phenylketonuria (PKU) is an inborn error of metabolism of aromatic acids with a complete deficiency of the enzyme phenylalanine hydroxylase (or its cofactor tetrahydrobiopterin) converting the amino acid phenylalanine to tyrosine.
HRAŠE, David
core  

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  

Spectrum of <i>PAH</i> gene variants in Jordanian patients with phenylalanine hydroxylase deficiency. [PDF]

Biomed Rep
Fathallah R, Al-Rashed K, Arafat A, Awwad H, Maraqa L, El-Khateeb M, Shboul M.   +6 more
europepmc   +1 more source

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. [PDF]

Sci Rep, 2017
Zhu T, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X.   +6 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
core  

ANALYSIS OF THE MOLECULAR HETEROGENEITY OF PHENYLALANINE-HYDROXYLASE BY CELL-FREE TRANSLATION OF HUMAN AND RAT-LIVER RNA

, 1982
ANALYSIS OF THE MOLECULAR HETEROGENEITY OF PHENYLALANINE-HYDROXYLASE BY CELL-FREE TRANSLATION OF HUMAN AND RAT-LIVER ...
A GRIMES (14575562), Julian Mercer (13076475), RGH COTTON (14575571), SM HUNT (14575646)   +3 more
core  

Amelioration of the neurological phenotype in PKU mouse model emphasizes the potential of base editing for metabolic diseases. [PDF]

Mol Ther Adv
Keskinen T, Hyvönen ME.
europepmc   +1 more source

Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies. [PDF]

Biology (Basel)
Tayeb FJ, Mir R, Alatawi S.
europepmc   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
Himmelreich N, Blau N.
europepmc   +1 more source