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pro vyhledávání: '"Sebastián Reinaldo Orrego-Betancur"'
Autor:
Kevin Arango-Simoni, Sebastián Reinaldo Orrego-Betancur, Juan Carlos Mejía-Turizo, Carlos Mario Franco-Echeverri, Sebastián Rojas-Múnera
Publikováno v:
IATREIA. 30:297-308
We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9cb387a0a2e2962d617525bc301f662
https://doi.org/10.17533/udea.iatreia.v30n3a05
https://doi.org/10.17533/udea.iatreia.v30n3a05
