Results 81 to 90 of about 17,994 (195)

Importância do diagnóstico e tratamento da fenilcetonúria Diagnoses and treatment of phenylketonuria

Revista de Saúde Pública, 2000
A fenilcetonúria (PKU) é o mais comum dos erros congênitos do metabolismo de aminoácidos. Resulta da deficiência da fenilalanina hidroxilase, enzima que catalisa a conversão de fenilalanina em tirosina.
Nádia VM de Mira, Ursula M Lanfer Marquez   +1 more
doaj   +1 more source

Cognitive Impairment, Depression and Cerebral Microbleeds in Immune Thrombocytopenia (ITP)

American Journal of Hematology, Volume 101, Issue 11, Page 2934-2938, November 2026.
Camelia Vladescu, Rozanna Meijboom, Alice C. J. Hart, Deena Paul, Christine Ademokun, Ariam Teklemichael, Bridget Chivers, Anastasia Gontsarova, Richard Szydlo, Adam D. Waldman, Nichola Cooper   +10 more
wiley   +1 more source

Phenylketonuria (PKU) – A Success Story [PDF]

, 2012
Phenylketonuria (PKU; OMIN 261600 and 261630) is an autosomal recessive geneticmetabolic disease. It is one of the most common of over 200 known such diseases, at least 30 of which have treatments to ameliorate the adverse effects. PKU is one of the first diseases causing mental and physical disability for which successful treatment has been developed.
openaire   +1 more source

Adult issues in phenylketonuria. [PDF]

, 2009
Contains fulltext : 79889.pdf (Publisher’s version ) (Open Access)Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet.
Heijer, M. den, Janssen, M.C.H., Hoeks, M.P.   +2 more
core  

A Babysitters' Guide to PKU. [PDF]

, 1987
You are babysitting a child and there is a special restriction. The child has PKU and you have never before heard of that. PKU, stands for "phenylketonuria" This child's body cannot use protein foods which contain phenylalanine or "pine" the same way
M. Trahms, Cristine, Cox, Carla, Owen, Greg, Strom, Teresa, Luce, Pamela   +4 more
core   +1 more source

Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report

Iranian Journal of Public Health, 2017
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity.
Masoumeh RAZIPOUR, Daniz KOOSHAVAR, Elaheh ALAVINEJAD, Seyede Zahra SAJEDI, Neda MOHAJER, Aria SETOODEH, Saeed TALEBI, Mohammad KERAMATIPOUR   +7 more
doaj  

Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase

Molecular Genetics and Metabolism Reports
Objective: To assess the impact of pegvaliase treatment on quality of life and individuals' perception of and satisfaction with therapy in Italian individuals with classical phenylketonuria (PKU) after diet liberalization.
Chiara Cazzorla, Giacomo Gaiga, Jessica Carretta, Vincenza Gragnaniello, Christian Loro, Daniela Gueraldi, Andrea Dorigato, Alessandro P. Burlina, Alberto B. Burlina   +8 more
doaj   +1 more source

Co-existence of Phenylketonuria (PKU) and beta-Thalassemia Major in a 16 Years Old Girl: A Case Report

International Journal of Hematology-Oncology and Stem Cell Research, 2012
While thalassemia major (TM) used to be a prevalent genetic disease in the past, however, Phenylketonuria (PKU) is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal
Hossein Karami, Mehrnoush Kosaryan, Ail Aliasgharian, Ali Abbaskhanian, Rayka Sharifian, Mehrdad Taghipour   +5 more
doaj  

Classical phenylketonuria associated with Goldenhar's syndrome. A case report

The Turkish Journal of Pediatrics, 1994
Classical phenylketonuria (PKU) and Goldenhar's syndrome were diagnosed in a six-month-old male infant who was referred to Hacettepe Children's Hospital for evaluation of developmental delay.
A Tokatli, T Coşkun, C N Kocabaş, I Ozalp, S Balci   +4 more
doaj  

Low increase in phenylalanine tolerance during pregnancies in PKU woman with high prepregnancy BMI and postconceptional initiation of diet: A case report

International Journal of Reproductive BioMedicine, 2019
Background Women with untreated phenylketonuria (PKU) are at an increased risk to have offspring with multiple abnormalities due to teratogenic effects of hyperphenylalaninaemia.
Joanna Żółkowska, Kamil Hozyasz, Ph.D.   +2 more
doaj   +1 more source