Results 31 to 40 of about 17,994 (195)

Saccadic reaction time and ocular findings in phenylketonuria

Orphanet Journal of Rare Diseases, 2020
Background Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration.
Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz   +5 more
doaj   +1 more source

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

Molecular Genetics and Metabolism Reports, 2019
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki, Taro Yamazaki, Megumi Saito, Akira Ohtake   +3 more
doaj   +1 more source

Random forest classifier improving phenylketonuria screening performance in two Chinese populations

Frontiers in Molecular Biosciences, 2022
Phenylketonuria (PKU) is a genetic disorder with amino acid metabolic defect, which does great harms to the development of newborns and children. Early diagnosis and treatment can effectively prevent the disease progression.
Yingnan Song, Yingnan Song, Zhe Yin, Chuan Zhang, Chuan Zhang, Chuan Zhang, Shengju Hao, Haibo Li, Shifan Wang, Xiangchun Yang, Qiong Li, Danyan Zhuang, Xinyuan Zhang, Zongfu Cao, Xu Ma, Xu Ma   +15 more
doaj   +1 more source

Phenylketonuria in Brazil: a narrative review on treatment and public policies regarding patient and family demands [PDF]

Brazilian Journal of Food Technology
Phenylketonuria (PKU) is an autosomal recessive disorder that affects phenylalanine metabolism and, if left untreated, leads to severe intellectual disability, behavioral problems, cognitive impairments, and other dysfunctions. This study aimed to assess
Daniele Cristina da Silva Napoli, Kaciane Andreola, Maria Teresa Bertoldo Pacheco   +2 more
doaj   +2 more sources

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase

Nature Communications, 2021
Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH) and can lead to neurotoxicity. Here the authors describe a mouse model of PKU based on a mutation in phenylalanine hydroxylase (R261Q) which replicates ...
Oscar Aubi, Karina S. Prestegård, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thöny, Aurora Martinez   +11 more
doaj   +1 more source

Diet Therapy and Nutritional Management of Phenylketonuria

, 2022
Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.

core   +1 more source

Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania [PDF]

Romanian Journal of Pediatrics, 2022
Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacid metabolism.
Alin Remus Iuhas, Claudia Jurca, Marius Bembea   +2 more
doaj   +1 more source

187 Maternal Phenylketonuria/PKU/ [PDF]

Pediatric Research, 1990
Social and family status aswell as intellectual level of 34 PKU girls being in reproductive age was analyzed. The analysis included history of 15 pregnancies. There vere 4 abortions, 2 pregnancies not treated ended with birth of malformed offspring, 3 with low phe diet introduced again during first trimester of pregnancy and 3 treated before the ...
Barbara Cabalska, Irena Nowaczewska
openaire   +1 more source

The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria

Evidence-Based Nursing Research
Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the ...
Khadiga M. Said, Safaa F. Draz
doaj   +1 more source

Mutations in the PAH gene: A Tool for population genetics study [PDF]

Archives of Biological Sciences, 2007
Phenylketonuria (PKU), an inborn error of metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. In the Serbian population, 19 different PAH mutations have been identified.
Stojiljković Maja, Stevanović Ana, Đorđević Maja, Petručev Branka, Tošić Nataša, Karan-Đurašević Teodora, Aveić Sanja, Radmilović Milena, Pavlović Sonja   +8 more
doaj   +1 more source