Results 111 to 120 of about 18,914 (186)

Specifics of nursing care for a child with phenylketonuria

, 2017
Current situation: Research in this work, in addition to the issue of the specifics of nursing care of children with phenylketonuria, also deals with the very important area of diagnostics, dietary measure and treatment of disease.
DVOŘÁKOVÁ, Monika
core  

Phenylketonuria and the Life with the Disease.

, 2015
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient activity of liver enzyme phenylalanine hydroxylase, which is necessary for metabolism of the essential amino acid phenylalanine to tyrosine.
JÁNSKÁ, Karin
core  

Patogenesis, Skrining, Diagnosis, dan Penatalaksanaan Phenylketonuria

, 2015
Phenylketonuria merupakan penyakit kelainan metabolisme asam amino bawaan akibat mutasi gen phenylalanine hydroxylase (PAH) yang terletak pada kromosom 12q23.2.
Kurniawan, L. B. (Liong)
core  

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial

Journal of Comparative Effectiveness Research
What is this summary about? This plain language summary is based on an article about the APHENITY trial that was published in The Lancet journal in October 2024.
Ania C Muntau, Sarah Gallagher, Melissa Lah, Amaya Belanger-Quintana, Nicola Longo   +4 more
doaj   +1 more source

Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism in Hubei, China. [PDF]

BMJ Open
Wang B, Zhang H, Xia Y, Liu X, Wu Q, Song J, Han J, Ning K.   +7 more
europepmc   +1 more source

Biochemical Studies of Phenylketonuria.

, 1961
Phenylketonuria is an inherited metabolic disorder which was discovered through the association of mental deficiency with the excretion of phenylpyruvic acid.
Boylen, Joyce B.
core  

Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis. [PDF]

Online J Public Health Inform
Yang S, Song K, Chen Q, Jiang J, Wang L.
europepmc   +1 more source

Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria

International audienceAim Phenylketonuria is an inherited metabolic disorder characterized by a deficiency in phenylalanine hydroxylase. However, the impact of this deficit on the patient's overall metabolism is not fully known.
Cunin, Valérie, Toussaint, Bertrand, Vézirian, Sébastien, Dias, Carlos, Le Gouellec, Audrey, Faure, Patrice, Corne, Christelle, Plazy, Caroline   +7 more
core   +1 more source

Phenylketonuria and type 1 diabetes: a clinical and nutritional challenge in a young adult-a case report. [PDF]

Acta Diabetol
Piccolo C, de Candia S, Natalicchio A, Di Molfetta S, Caruso I, Laviola L, Giorgino F, Sorice GP.   +7 more
europepmc   +1 more source

A pioneering transition program for adults with phenylketonuria - initial findings from a single-center one-year experience from Poland. [PDF]

Clinics (Sao Paulo)
Kania M, Pietruś M, Pawliński Ł, Orchel-Szastak K, Kwinta P, Małecki MT.   +5 more
europepmc   +1 more source