Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Alicia Hillert"'
Autor:
Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 59-67 (2020)
Abstract Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This s
Externí odkaz:
https://doaj.org/article/43be0f31bdd2473da1912c53a72e3ee9
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
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
Autor:
Cristiana Artiola, Amjad Mahasneh, Wajdi Amayreh, Nenad Blau, Sirio D'Amici, Jürgen G. Okun, Haneen Ababneh, Buthaina Al Rababah, Yongguo Yu, Alicia Hillert, Momen Al Aqeel, Kefah Al Qaqa, Manuela Tolve, Georg F. Hoffmann, Nan Shen, Nastassja Himmelreich, Carla Carducci
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 59-67 (2020)
JIMD Reports
JIMD Reports
Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs. Objective This study seek
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1d104295d4482f0d842a65bcaba7a21
https://www.zora.uzh.ch/id/eprint/196238/
https://www.zora.uzh.ch/id/eprint/196238/
Publikováno v:
Journal of Inherited Metabolic Disease; Nov2021 Supplement S1, Vol. 44, p1-461, 461p
Autor:
Carducci, Carla, Amayreh, Wajdi, Ababneh, Haneen, Mahasneh, Amjad, Al Rababah, Buthaina, Al Qaqa, Kefah, Al Aqeel, Momen, Artiola, Cristiana, Tolve, Manuela, D'Amici, Sirio, Shen, Nan, Yu, Yongguo, Hillert, Alicia, Himmelreich, Nastassja, Okun, Jürgen G., Hoffmann, Georg F., Blau, Nenad
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2020, Vol. 55 Issue 1, p59-67, 9p