Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease
نویسندگان
چکیده
منابع مشابه
Increase in antimullerian hormone in long-term follow-up of patients with endometrioma after laparoscopic surgery
Abstract Background: Endometriosis is a common disease which is characterized by the development of the endometrial tissue outside the uterus. The most common location of endometriosis is the ovary, occurring in 17-44% of affected patients . It is a chronic disease mostly affecting women at reproductive age. Therefore, it is important to predict and protect the patients’ ovarian function. The...
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OBJECTIVE To describe the long-term follow-up and distinct phenotype of a large cohort of patients with Gaucher disease type 3 on enzyme replacement therapy (ERT) in Egypt. METHODS A prospective cohort study of 78 patients on ERT who were followed for up to 9 years with yearly evaluations that included EEG and cognitive testing. RESULTS Of the patients, 73% were homozygous for the L444P GBA...
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متن کاملAtypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.
INTRODUCTION Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and striations. A few previous observations have indicated that sometimes GD patients may display morphology of GCs which is different from this classical d...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2019
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2018.12.108