Carnitine, Amino Acids, Vitamins, and Hematological Status in Children with Classical Phenylketonuria: A Case-Control Study. [PDF]
NutrientsArslan S, Dişci E.
europepmc +1 more source
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
Psychometric validation of the NIH Toolbox for use with individuals with phenylketonuria: Evidence from the PHEFREE consortium longitudinal study. [PDF]
J Int Neuropsychol SocTardiff CT +9 more
europepmc +1 more source
Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria". [PDF]
J Inherit Metab DisCarling RS, Whyte E, Moat SJ.
europepmc +1 more source
Molecular Genetics of Phenylketonuria in East Asia
Phenylketonuria is a highly heterogeneous disorder for which more than 150 different mutations have been identified world wide. These mutations exhibit an association with restriction fragment-length polymorphism haplotypes at the phenylalanine ...
Okano, Yoshiyuki
core
Identifying Barriers in the Prescription Pathway of Special Low-Protein Foods and Protein Substitutes for People with PKU in the UK: An Industry Perspective. [PDF]
NutrientsTosi M +4 more
europepmc +1 more source
Re: Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study. [PDF]
JIMD RepHall PL, Turgeon C, Matern D.
europepmc +1 more source
Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study. [PDF]
Orphanet J Rare DisMikołuć B +7 more
europepmc +1 more source
Biochemical Evaluation of Bone Health in Children with Phenylketonuria, Organic Acidemias, and Glycogen Storage Diseases Under Dietary Management. [PDF]
NutrientsGokalp S, Pasaoglu H.
europepmc +1 more source
Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.
JAMA Netw OpenWang S +7 more
europepmc +1 more source