Results 101 to 110 of about 17,994 (195)

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo ¹H-NMR Analysis. [PDF]

Molecules, 2023
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F.   +10 more
europepmc   +1 more source

In Vivo Metabolic Responses to Different Formulations of Amino Acid Mixtures for the Treatment of Phenylketonuria (PKU). [PDF]

Int J Mol Sci, 2022
Giarratana N, Giardino L, Bighinati A, Reiner G, Rocha JC.   +4 more
europepmc   +1 more source

Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria

BMC Nursing
Introduction Nurses play a crucial role in the primary prevention of phenylketonuria (PKU) within national screening programs for newborns. This is achieved through consult with the child’s provider promptly to arrange a PKU test, accurate collection of ...
Esraa Mohammed Abd El-Samie Ismail, Wafaa Mohamed Elarousy, Shaymaa Saeed Mohamed Badawe, Rasha Mohamed Abohadida   +3 more
doaj   +1 more source

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. [PDF]

Orphanet J Rare Dis, 2021
Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, Jung A, Schönherr K, Joerg-Streller M, Luttat S, Matzgen S, Winkler T, Rosenbaum-Fabian S, Joos O, Beblo S.   +15 more
europepmc   +1 more source

New Parents' Guide to PKU.

The purpose of this booklet is to help to familiarize you, as new parents of a child with phenylketonuria (called PKU), with PKU and its treatment. It will also help to orient you to the PKU clinic and the people there who will help you to manage your
Trahms, Cristine M., Owen, Greg, Strom, Teresa, Luce, Pamela   +3 more
core  

Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls [PDF]

, 2009
Berlepsch, Juliana Freiin von
core   +1 more source

Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice. [PDF]

Mol Genet Metab, 2022
Winn SR, Dudley S, Scherer T, Rimann N, Thöny B, Boutros S, Krenik D, Raber J, Harding CO.   +8 more
europepmc   +1 more source

Educational material for children of pre-primary and primary age with phenylketonuria [PDF]

, 2017
The subject of this bachelor's thesis is the issue of phenylketonuria (PKU), a metabolic disease. The thesis is supported by theoretical background which relates to PKU.
Husová, Kristýna
core  

Measuring Burden of Illness in Phenylketonuria (PKU): Development of the PKU Symptom Severity and Impacts Scale as a Robust Patient-Reported Outcome. [PDF]

Adv Ther, 2022
Quinn J, Georgiadis A, Lewis HB, Jurecki E.   +3 more
europepmc   +1 more source

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis. [PDF]

Nutrients, 2021
Rodrigues C, Pinto A, Faria A, Teixeira D, van Wegberg AMJ, Ahring K, Feillet F, Calhau C, MacDonald A, Moreira-Rosário A, Rocha JC.   +10 more
europepmc   +1 more source