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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
BACKGROUND Current treatment for Gaucher's disease involves administration of intravenous glucocerebrosidase to degrade glucocerebroside stored in lysosomes. Lowering the rate of biosynthesis ofExpand
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Gaucher Disease: Clinical, Laboratory, Radiologic, and Genetic Features of 53 Patients
We have reviewed our experiences with the clinical, laboratory, radiologic, and genetic features of 53 patients with Gaucher disease. Most were evaluated during early adult life, with a mean age ofExpand
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Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
PURPOSE Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy. Previous studies in relatively small numbers of patientsExpand
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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.
BACKGROUND The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimalExpand
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Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
Summary: It has been shown that treatment with miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) improves key clinical features of type I Gaucher disease after 1 year of treatment. This studyExpand
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How I treat Gaucher disease.
This review presents a cohesive approach to treating patients with Gaucher disease. The spectrum of the clinical presentation of the disease is broad, yet heretofore there was only oneExpand
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Mutations causing gaucher disease
Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive GaucherExpand
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Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
IMPORTANCE Information on age-specific risk for Parkinson disease (PD) in patients with Gaucher disease (GD) and glucocerebrosidase (GBA) heterozygotes is important for understanding theExpand
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The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.
PURPOSE Investigate the incidence of Parkinsonism among patients with Gaucher disease type 1 (GD1) and describe demographics, genotypes, and Gaucher disease (GD)-related characteristics for affectedExpand
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Gynecologic and obstetric aspects of Gaucher's disease: a survey of 53 patients.
OBJECTIVE We report our experience on the gynecologic and obstetric features of 53 female patients with Gaucher's disease. STUDY DESIGN Each patient was interviewed for a detailed medical history,Expand
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