Zobrazeno 1 - 10
of 13
pro vyhledávání: '"András Gellért Barta"'
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract 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 discrepa
Externí odkaz:
https://doaj.org/article/9de6a35a1c3e47259c17ab8c1cb6dde5
Autor:
András Gellért Barta, Csaba Sumánszki, Zsófia Turgonyi, Erika Kiss, Erika Simon, Csilla Serfőző, Péter Reismann
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU pa
Externí odkaz:
https://doaj.org/article/e15dbaa1e7694bf88bf05855e3dfae07
Autor:
Miklós D. Resch, Csaba Sumanszki, András Gellért Barta, Csilla Serfozo, Zoltán Zsolt Nagy, Péter Reismann, Béla Csákány, Endre Horvath
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100767-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Purpose: Macular structure is poorly evaluated in early-treated phenylketonuria (ETPKU). To evaluate potential changes, we aimed to examine retinas of PKU patients using optical coherence tomography (OCT) with additional OCT angiography (OCTA) and co
Autor:
András Gellért Barta, Dóra Becsei, Erika Kiss, Csaba Sumánszki, Erika Simonová, Péter Reismann
Publikováno v:
Annals of nutritionmetabolism. 78(2)
Introduction: Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted diet with additional amino acid supplementations, and this may put them at risk for nutritional disturbances. However, the body composition and nu
Autor:
Endre Horvath, Csaba Sumanszki, Csilla Serfozo, Béla Csákány, András Gellért Barta, Péter Reismann, Miklós D. Resch, Zoltán Zsolt Nagy
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100649-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Purpose: Retinal changes are poorly described in early treated phenylketonuria (ETPKU). We aimed to investigate possible visual functional and ocular microstructural changes in adult patients with ETPKU. Optical coherence tomography (OCT) and its ang
Autor:
E. Kiss, Zsófia Turgonyi, András Gellért Barta, Csaba Sumanszki, Péter Reismann, Csilla Serfőző, Erika Simon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: The implementation of neonatal screening and the early initiation of lifelong therapy have helped to prevent severe complications and enabled much more favorable outcomes for early-treated phenylketonuria (ETPKU) patients. However, PKU pa
Publikováno v:
Orvosi Hetilap. 158:1857-1863
Abstract: Starting from 1975 phenylketonuria is part of the newborn screening program in Hungary. Since then a generation, treated with special diet and medical foods right after neonatal diagnosis has reached adulthood. Thanks to early treatment ini
Publikováno v:
Orvosi Hetilap. 158:1868-1872
Abstract: Introduction: Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic. Aim: The main aim of our study was
Publikováno v:
Orvosi hetilap. 158(47)
Starting from 1975 phenylketonuria is part of the newborn screening program in Hungary. Since then a generation, treated with special diet and medical foods right after neonatal diagnosis has reached adulthood. Thanks to early treatment initiation, c
Publikováno v:
Orvosi hetilap. 158(47)
Patients with phenylketonuria have lower bone mineral density compared to healthy people, however, the ethiology of these alterations is not clear. Hungarian data were missing in this topic.The main aim of our study was to survey the correlation betw