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The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Autor: Ahmed Al-Imam

Publikováno v: Asian Journal of Medical Sciences, Vol 9, Iss 6, Pp 93-99 (2018)

Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous s

Externí odkaz: https://doaj.org/article/6ac16a8fb31a408ab008cf73e2ee50bc

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

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

The Genetic Landscape and Epidemiology of Phenylketonuria

Autor: Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768b402852aaa9ae171798302180500a
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b

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