Results 11 to 20 of about 16,591 (243)

Health-related quality of life in a european sample of adults with early-treated classical PKU [PDF]

Orphanet Journal of Rare Diseases, 2023
Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover,
Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts   +12 more
doaj   +2 more sources

NUTRITIONAL KNOWLEDGE IN PHENYLKETONURIA (PKU)

Alimentos e Nutrição, 2009
<p align="justify">ABSTRACT: A review of phenylketonuria (PKU) an autosomal recessive genetic desorder discovered and described in 1934 is presented and discussed.
Beatriz D. O. MIRANDA DA CRUZ, Horst SEIDER, Kurt WIDHALM   +2 more
doaj   +1 more source

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria. [PDF]

MedComm (2020)
In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
López-Rey N, Cabaleiro A, Pata MP, Peyrou M, Estévez-Salguero Á, Fernández-Sanmartín P, Morgan DA, Ferreira V, Sánchez-Pintos P, Folgueira C, Diéguez C, Urisarri A, González-García I, Seoane LM, Rahmouni K, Villarroya F, Couce ML, Nogueiras R, López M.   +18 more
europepmc   +2 more sources

Correction to: PKU dietary handbook to accompany PKU guidelines [PDF]

Orphanet Journal of Rare Diseases, 2020
An amendment to this paper has been published and can be accessed via the original article.
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen   +17 more
openaire   +5 more sources

Allelic phenotype prediction of phenylketonuria based on the machine learning method

Human Genomics, 2023
Background Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Our study aimed to predict the phenotype using the allelic genotype.
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang   +10 more
doaj   +1 more source

Dental Status and Periodontal Health of Patients with Phenylketonuria in Latvia

Acta Stomatologica Croatica, 2022
Objectives: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism resulting from a deficiency of phenylalanine hydroxylase.
Iveta Abola, Darta Elizabete Emulina, Ingus Skadins, Anda Brinkmane, Linda Gailite, Madara Auzenbaha   +5 more
doaj   +1 more source

Intestinal peroxisome proliferator‐activated receptor α‐fatty acid‐binding protein 1 axis modulates nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan, Yuhong Luo, Nana Yan, Keisuke Hamada, Nan Zhao, Yangliu Xia, Ping Wang, Changdong Zhao, Dan Qi, Shoumei Yang, Lulu Sun, Jie Cai, Qiong Wang, Changtao Jiang, Oksana Gavrilova, Kristopher W. Krausz, Daxesh P. Patel, Xiaoting Yu, Xuan Wu, Haiping Hao, Weiwei Liu, Aijuan Qu, Frank J. Gonzalez   +22 more
wiley   +1 more source

Fenilcetonuria and hyperactivity: results in extremeños children

INFAD, 2015
Phenylketonuria (PKU) is a type of hyperphenylalaninemias, which are an inborn group of errors of the amino acid phenylalanine metabolism that are usually characterized by producing a severe mental retardation and even death if it is not treated properly.
Virgilio García Aparicio, Florencio Vicente Castro   +1 more
doaj   +1 more source

Nutrient Status among Latvian Children with Phenylketonuria

Children, 2023
(1) Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism. The main treatment for PKU is to manage nutrition, thereby restricting phenylalanine intake. Part of patient management is analyzing eating habits
Olga Lubina, Linda Gailite, Julija Borodulina, Madara Auzenbaha   +3 more
doaj   +1 more source

Comparison of IQ scores between children with phenylketonuria and healthy children referring to Besat Hospital in Sanandaj between 2017 and 2018 [PDF]

مجله علمی دانشگاه علوم پزشکی کردستان, 2019
Background and Aim:Phenylketonuria is a type of autosomal recessive congenital and genetically induced fungal disease that has not been converted to tyrosine by the lack or lack of the phenylalanine hydroxylase enzyme and has been shown
Asadollah Fatholahpuor, Sima Alimoradi, Fayegh Yousefi, Hajar Kashefi   +3 more
doaj   +2 more sources