Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Puriya D W Yazdanfard"'
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Victor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 18, Iss 6, p e0287268 (2023)
[This corrects the article DOI: 10.1371/journal.pone.0277767.].
Externí odkaz:
https://doaj.org/article/8883cb76a9684b67b23e0587339173dc
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
PLoS ONE, Vol 17, Iss 11, p e0277767 (2022)
The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001
Externí odkaz:
https://doaj.org/article/46f76d69a186404e998ffcca330b395a
Autor:
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F. Hasholt, Flemming Wibrand, Soren S. Sorensen, Allan M. Lund, Lars Kober, Henning Bundgaard, Puriya D. W. Yazdanfard, Peter Oturai, Vibeke A. Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Publikováno v:
Effraimidis, G, Rasmussen, Å K, Dunoe, M, Hasholt, L F, Wibrand, F, Sorensen, S S, Lund, A M, Kober, L, Bundgaard, H, Yazdanfard, P D W, Oturai, P, Larsen, V A, de Abreu, V H F, Enevoldsen, L H, Kristensen, T, Svenstrup, K, Bille, M B, Arif, F, Mogensen, M, Klokker, M, Backer, V, Kistorp, C & Feldt-Rasmussen, U 2022, ' Systematic cascade screening in the Danish Fabry Disease Centre : 20 years of a national single-centre experience ', PLoS ONE, vol. 17, no. 11, e0277767 . https://doi.org/10.1371/journal.pone.0277767
The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years’ (20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9abf80b02ebe0321b2bbfd7d4f319e3
https://curis.ku.dk/ws/files/340540170/journal.pone.0277767.pdf
https://curis.ku.dk/ws/files/340540170/journal.pone.0277767.pdf