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

著者 Le Peillet D , Prendki V , Trombert V , Laffitte E , Assal F , Reny JL , Serratrice C
Medicine (Baltimore).2018 Mar ; 97(13):e0188.
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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 enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy). The diagnosis is usually made in first decades but is sometimes delayed. Parkinson disease, neoplasia, and immune system abnormalities may be associated with GD1.
PMID: 29595653 [PubMed - in process]
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