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Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report

RATIONALE: Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an en...

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Detalles Bibliográficos
Autores principales: Le Peillet, Damien, Prendki, Virginie, Trombert, Véronique, Laffitte, Emmanuel, Assal, Frédéric, Reny, Jean Luc, Serratrice, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895386/
https://www.ncbi.nlm.nih.gov/pubmed/29595653
http://dx.doi.org/10.1097/MD.0000000000010188