Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pedro Reimão"'
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2012 (2012)
Background. Lymphangioma is a rare venolymphatic lesion, characterized by dilation of lymphatic vessels. It may occur as an isolated lesion or, more often, represent the surface component of a deep orbital lymphangioma. Case. We report a case of a co
Externí odkaz:
https://doaj.org/article/b62ce1cd92a540a29b5f01d58f106bb6
Autor:
Emilia Lopes, Rui Faria, Paulo Gaspar, Olga Azevedo, Alice Martins, Jorge Rodrigues, Sónia Simões, Gabriel Miltenberger-Miltenyi, Pedro Reimão, Nuno Sousa, Olga Pereira, Damião Cunha, Fátima Dias, Miguel Gago, Andreas Gal, Maria José Guimarães
Publikováno v:
Molecular Genetics and Metabolism. 129:150-160
Background Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.F113L) in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df03cb27173cb895c2f6d02ec72b6977
https://doi.org/10.1016/j.ymgme.2019.07.012
https://doi.org/10.1016/j.ymgme.2019.07.012
Publikováno v:
Case Reports in Ophthalmological Medicine
Case Reports in Ophthalmological Medicine, Vol 2012 (2012)
Case Reports in Ophthalmological Medicine, Vol 2012 (2012)
Background. Lymphangioma is a rare venolymphatic lesion, characterized by dilation of lymphatic vessels. It may occur as an isolated lesion or, more often, represent the surface component of a deep orbital lymphangioma.Case. We report a case of a con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7a2eed54352a73483308edec283003
http://europepmc.org/articles/PMC3362820
http://europepmc.org/articles/PMC3362820