Adaptive pathway development for Fabry disease: a clinical approach

Fabry Disease: New Therapeutic Approach

Fabry’s disease is an X-linked recessive lysosomal storage disorder that is caused by the deficient activity of the lysosomal α-galactosidase (α-GAL A). This results in the accumulation of globotriaosylceramide (GL3 or ceramide trihexoside, CTH) and related glycosphingolipids. In hemizygous male patients with the classic phenotype, levels of αGAL A activity are very low or undetectable. Patient...

a new approach to credibility premium for zero-inflated poisson models for panel data

هدف اصلی از این تحقیق به دست آوردن و مقایسه حق بیمه باورمندی در مدل های شمارشی گزارش نشده برای داده های طولی می باشد. در این تحقیق حق بیمه های پبش گویی بر اساس توابع ضرر مربع خطا و نمایی محاسبه شده و با هم مقایسه می شود. تمایل به گرفتن پاداش و جایزه یکی از دلایل مهم برای گزارش ندادن تصادفات می باشد و افراد برای استفاده از تخفیف اغلب از گزارش تصادفات با هزینه پائین خودداری می کنند، در این تحقیق ...

Clinical trial for Fabry disease faces continuing hurdles.

Enzyme replacement therapy for Fabry disease: proving the clinical benefit.

Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme a-galactosidase A (a-Gal A). The lack of a-Gal A leads to incomplete metabolism and progressive lysosomal accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3). This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerula...

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease

Two disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel...