Zobrazeno 1 - 10
of 179
pro vyhledávání: '"Phenylalanine hydroxylase gene"'
Autor:
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of va
Externí odkaz:
https://doaj.org/article/c5db2aea75dd434aa902b855bbcd60fb
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Pavlović Sonja, Stojiljković Maja
Publikováno v:
Journal of Medical Biochemistry, Vol 28, Iss 4, Pp 262-267 (2009)
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine hyd
Externí odkaz:
https://doaj.org/article/c582354c96ff4c9ca4dd967fc7d2d90d
Autor:
Stojiljković Maja, Stevanović Ana, Đorđević Maja, Petručev Branka, Tošić Nataša, Karan-Đurašević Teodora, Aveić Sanja, Radmilović Milena, Pavlović Sonja
Publikováno v:
Archives of Biological Sciences, Vol 59, Iss 3, Pp 161-167 (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. We used PAH mutations as molecular markers for popul
Externí odkaz:
https://doaj.org/article/8366dc4ea5e542d68f74f804ff8d581b
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc51a5d301d3147d96e4723db70235f
http://www.sciencedirect.com/science/article/pii/S2214426921000616
http://www.sciencedirect.com/science/article/pii/S2214426921000616
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Medical Journal of the Islamic Republic of Iran
Scopus-Elsevier
Scopus-Elsevier
Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylket
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2272b9cb93b32850e02f02c8468df2be
https://pubmed.ncbi.nlm.nih.gov/30159272
https://pubmed.ncbi.nlm.nih.gov/30159272
Autor:
Patrick Wagner, Bart van Grinsven, Veronique Vermeeren, Marcel Ameloot, Ward De Ceuninck, Ken Haenen, Mohammed Sharif Murib, Weng Siang Yeap, Luc Michiels, Natalie Vanden Bon
Publikováno v:
International Journal of Nanomedicine, 9, 1629-1640. Dove Medical Press Ltd
International Journal of Nanomedicine
International Journal of Nanomedicine
Natalie Vanden Bon,1 Bart van Grinsven,2 Mohammed Sharif Murib,2 Weng Siang Yeap,2 Ken Haenen,2,3 Ward De Ceuninck,2,3 Patrick Wagner,2,3 Marcel Ameloot,1 Veronique Vermeeren,1 Luc Michiels11Biomedical Research Institute, Hasselt University, Diepenbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a11b935e24392db85f80ba4d1f5c0019
https://doi.org/10.2147/IJN.S58692
https://doi.org/10.2147/IJN.S58692
Autor:
Natasa Tosic, Ana Z. Stevanovic, Sanja Aveic, Maja Djordjevic, Maja Stojiljkovic, Branka Petrucev, Sonja Pavlovic, Milena Radmilovic, Teodora Karan-Djurasevic
Publikováno v:
Archives of Biological Sciences, Vol 59, Iss 3, Pp 161-167 (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. We used PAH mutations as molecular markers for popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f0df93f6630aa4493762addca0434ce
http://www.doiserbia.nb.rs/img/doi/0354-4664/2007/0354-46640703161S.pdf
http://www.doiserbia.nb.rs/img/doi/0354-4664/2007/0354-46640703161S.pdf