Results 11 to 20 of about 19,693 (207)

PKU dietary handbook to accompany PKU guidelines [PDF]

Orphanet Journal of Rare Diseases, 2020
Abstract Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body In 2017 the first European PKU Guidelines were published.
MacDonald A., Van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Burlina A., Campistol J., Coskun T., Feillet F., Gizewska M., Huijbregts S. C., Leuzzi V., Maillot F., Muntau A. C., Rocha J. C., Rocha J. C., Romani C., Trefz F., Van Spronsen F. J.   +18 more
core   +12 more sources

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   +3 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

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

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

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   +4 more sources

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

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

Hargai petugas PKU, barisan hadapan kita [PDF]

, 2020
Kuantan, 9 April – Mendepani penularan wabak Covid-19 yang telah diisytiharkan sebagai pandemik oleh Pertubuhan Kesihatan Sedunia (WHO), Pusat Kesihatan Universiti (PKU) sentiasa bersiap siaga ‘memerangi’ penularan wabak tersebut di kampus ...
Siti Nurfarmy, Ibrahim
core   +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