Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Lluisa Vilageliu"'
Autor:
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing
Externí odkaz:
https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3
Autor:
Malekkou, Anna1,2 (AUTHOR), Sevastou, Ioanna1 (AUTHOR), Mavrikiou, Gavriella1 (AUTHOR), Georgiou, Theodoros1,2 (AUTHOR), Vilageliu, Lluisa3 (AUTHOR), Moraitou, Marina4 (AUTHOR), Michelakakis, Helen4 (AUTHOR), Prokopiou, Chrystalla5 (AUTHOR), Drousiotou, Anthi1,2 (AUTHOR) anthidr@cing.ac.cy
Publikováno v:
Molecular Genetics & Genomic Medicine. Mar2020, Vol. 8 Issue 3, p1-6. 6p.
Autor:
Cormand, Bru, Vilageliu, Lluïsa, Burguera, José M., Balcells, Susana, Gonzàlez-Duarte, Roser, Grinberg, Daniel, Chabás, Amparo
Publikováno v:
Human Mutation; 1995, Vol. 5 Issue 4, p303-309, 7p
Autor:
Bayés, Mònica, Giordano, Mara, Balcells, Susana, Grinberg, Daniel, Vilageliu, Llusïsa, Martínez, Immaculada, Ayuso, Carmen, Benítez, Javier, Ramos-Arroyo, María A., Chivelet, Pilar, Solans, Teresa, Valverde, Diana, Amselem, Serge, Goossens, Michel, Baiget, Montserrat, Gonzàlez-Duarte, Roser, Besmond, Claude
Publikováno v:
Human Mutation; 1995, Vol. 5 Issue 3, p228-234, 7p
Autor:
Valverde, Diana, Solans, Teresa, Grinberg, Daniel, Balcells, Susana, Vilageliu, Lluisa, Bayés, Mónica, Chivelet, Pilar, Besmond, Claude, Goossens, Michel, González-Duarte, Roser, Baiget, Montserrat
Publikováno v:
Human Genetics; 1996, Vol. 97 Issue 1, p35-38, 4p
Autor:
Bayés, M, Goldaracena, B, Martínez-Mir, A, Iragui-Madoz, M I, Solans, T, Chivelet, P, Bussaglia, E, Ramos-Arroyo, M A, Baiget, M, Vilageliu, L, Balcells, S, Gonzàlez-Duarte, R, Grinberg, D
Publikováno v:
Journal of Medical Genetics; Feb1998, Vol. 35 Issue 2, p141-145, 5p, 1 Color Photograph, 1 Diagram, 2 Charts
Autor:
Cormand, Bru, Vilageliu, Lluïsa, Balcells, Susana, Gonzàlez-Duarte, Roser, Chabás, Amparo, Grinberg, Daniel
Publikováno v:
Human Mutation; 1996, Vol. 7 Issue 3, p272-274, 3p
Autor:
Chabás, A, Cormand, B, Grinberg, D, Burguera, J M, Balcells, S, Merino, J L, Mate, I, Sobrino, J A, Gonzàlez-Duarte, R, Vilageliu, L
Publikováno v:
Journal of Medical Genetics; Sep1995, Vol. 32 Issue 9, p740-742, 3p
Autor:
Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch
Autor:
Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or bioch