Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Silvia, Sokn"'
Autor:
Joaquín Frabasil, Consuelo Durand, Silvia Sokn, Daniela Gaggioli, Patricia Carozza, Ricardo Carabajal, Juan Politei, Andrea B. Schenone
Publikováno v:
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019)
Abstract Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other
Externí odkaz:
https://doaj.org/article/85e7954499a04297a85d4c31d999ebcb
Publikováno v:
Molecular Genetics and Metabolism. 135:S43-S44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a82a40116413ad8d1901b524bcd3080e
https://doi.org/10.1016/j.ymgme.2021.11.101
https://doi.org/10.1016/j.ymgme.2021.11.101
Autor:
Joaquin Frabasil, Dana Velasquez Rivas, Gustavo M. Bertot, Luciana Gualco, Carabajal Ricardo, Patricia Carozza, Daniela Gaggioli, Gabriela Colmenares, Silvia Sokn
Publikováno v:
Molecular Genetics and Metabolism. 135:S43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::877855a438986f01f9296f36f8174538
https://doi.org/10.1016/j.ymgme.2021.11.100
https://doi.org/10.1016/j.ymgme.2021.11.100
Autor:
Daniela Gaggioli, Juan Politei, Andrea Schenone, Joaquin Frabasil, Ricardo Carabajal, Patricia Carozza, Silvia Sokn, Consuelo Durand
Publikováno v:
JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019)
JIMD Reports, Vol 48, Iss 1, Pp 45-52 (2019)
Background Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by enzyme Alpha‐Galactosidase A (α‐Gal‐A) deficiency, due mutations in GLA gene. Progressive glycolipid accumulation leads to damage in kidney and other organs. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09045ea87f3359a070922915a0a35783
https://pubmed.ncbi.nlm.nih.gov/31392112
https://pubmed.ncbi.nlm.nih.gov/31392112
Autor:
Rivas, Dana Velasquez, Frabasil, Joaquin, Colmenares, Gabriela, Luciana, Gualco, Santos, Marina De Los, Morales, Lautaro, Fuertes, Andrea, Fernandez, Juan, Bertot, Gustavo M., Silvia, Sokn
Publikováno v:
In Molecular Genetics and Metabolism February 2022 135(2):S124-S124
Publikováno v:
Molecular Genetics and Metabolism. 123:S47-S48
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81086fc4414712adac872cae1bd3266b
https://doi.org/10.1016/j.ymgme.2017.12.108
https://doi.org/10.1016/j.ymgme.2017.12.108
Autor:
Daniela Gaggioli, Silvia Sokn, Consuelo Durand, Juan Politei, Joaquin Frabasil, Ricardo Carabajal, Andrea Schenone, Patricia Carozza
Publikováno v:
Molecular Genetics and Metabolism. 126:S56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a40c71fc5a50a254bca05c524727f368
https://doi.org/10.1016/j.ymgme.2018.12.128
https://doi.org/10.1016/j.ymgme.2018.12.128
Publikováno v:
Molecular Genetics and Metabolism. 120:S119
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba0a6b4073b64e426c3c1e4ce935033c
https://doi.org/10.1016/j.ymgme.2016.11.307
https://doi.org/10.1016/j.ymgme.2016.11.307
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