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Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease

✍ Scribed by Hayashi, Anri; Kawakita, Rie; Kumada, Tomohiro; Nozaki, Fumihito; Hiejima, Ikuko; Miyajima, Tomoko; Kusunoki, Takashi; Fujii, Tatsuya

Book ID
121494247
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
549 KB
Volume
36
Category
Article
ISSN
0387-7604

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Glucocerebrosidase gene mutations in pat
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## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2