Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Minela Haskovic"'
Autor:
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible
Externí odkaz:
https://doaj.org/article/14f787f239734944a06747ee7ac1581c
Autor:
Jo Vanoevelen, Ana I. Coelho, M. Estela Rubio-Gozalbo, Jörgen Bierau, Laura K.M. Steinbusch, Minela Haskovic, Gerard T. Berry, Eduardo Villamor-Martinez, Luc J. I. Zimmermann
Publikováno v:
Journal of Inherited Metabolic Disease
Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the ga
Autor:
Jörgen Bierau, Martijn Lindhout, M. Estela Rubio-Gozalbo, Fokje Zijlstra, Ana I. Coelho, Minela Haskovic, Raisa Veizaj, Dirk Lefeber, Rein Vos, Jo Vanoevelen
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001
Nucleotide sugars (NS) are fundamental molecules in life and play a key role in glycosylation reactions and signal conduction. Several pathways are involved in the synthesis of NS. The Leloir pathway, the main pathway for galactose metabolism, is cru
Autor:
Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758
Contains fulltext : 282590.pdf (Publisher’s version ) (Open Access) Messenger RNA (mRNA) has emerged as a novel therapeutic approach for inborn errors of metabolism. Classic galactosemia (CG) is an inborn error of galactose metabolism caused by a s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590
http://hdl.handle.net/2066/282590
Autor:
Susan Feenstra, Susan E. Waisbren, Wanshu Qi, Gerard T. Berry, Leah Hecht, Vikram Daesety, Minela Haskovic, Didem Demirbas, Xiaoping Huang, Harvey L. Levy, Cynthia S. Gubbels
Publikováno v:
Molecular genetics and metabolism. 126(4)
Background GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galact
Autor:
M. Estela Rubio-Gozalbo, Minela Haskovic, S. H. Benneheij, W. J. Poot, Esmee Oussoren, G. de Wert, Anja Krumeich, R. van Golde
Publikováno v:
Journal of Inherited Metabolic Disease, 41(5), 791-797. Wiley
Journal of Inherited Metabolic Disease, 41(5), 791-797. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(5), 791-797. Springer Netherlands
Journal of Inherited Metabolic Disease
Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4215deb59b4e2ce5e81a2eda90a5d873
https://cris.maastrichtuniversity.nl/en/publications/dc9eaaba-1a1a-451f-9be0-5d3eb6742d32
https://cris.maastrichtuniversity.nl/en/publications/dc9eaaba-1a1a-451f-9be0-5d3eb6742d32