Cargando…
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...
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 |
Ejemplares similares
-
A multicenter, open-label, phase III study of Abcertin in Gaucher disease
por: Lee, Beom Hee, et al.
Publicado: (2017) -
Diagnosis of systemic lupus erythematosus by presence of Hargraves cells in eosinophilic pleural effusion: Case report
por: D’Andréa, Alexia, et al.
Publicado: (2018) -
Paget disease of bone in an elderly patient with chronic renal disease and weight loss: A case report
por: Chan, Po-Kai, et al.
Publicado: (2019) -
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
por: Couce, María Luz, et al.
Publicado: (2019) -
Case report and literature review: Fabry disease misdiagnosing as polymyalgia rheumatica
por: Yanfang, Wu, et al.
Publicado: (2023)