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Full-Text Articles in Medicine and Health Sciences
Pharmacological Chaperoning In Fabry Disease, Jerome Rogich
Pharmacological Chaperoning In Fabry Disease, Jerome Rogich
Masters Theses 1911 - February 2014
Fabry Disease is an X-‐linked lysosomal storage disorder characterized by a variety of symptoms including hypohydrosis, seizures, cardiac abnormalities, skin lesions, and chronic pain. These symptoms stem from a lack of functional endogenous α-‐ Galactosidase A (α-GAL), which leads to an accrual of its natural substrate. The severity of the disease symptoms can be directly correlated with the amount of residual enzyme activity. It has been shown that an imino sugar, 1-deoxygalactonojirimycin (DGJ), can increase enzymatic activity and clear excess substrate. This pH-‐dependent chaperoning phenomenon is believed to arise from the presence of aspartic acid 170 in the active site. …
Vitamin D Levels And Risk Of Dyslipidemia Among Us Children With Diabetes And Obesity, Elsina E. Hagan
Vitamin D Levels And Risk Of Dyslipidemia Among Us Children With Diabetes And Obesity, Elsina E. Hagan
Masters Theses 1911 - February 2014
Dyslipidemia is increasing among U.S. children, and the prevalence is highest among children with diabetes and obesity. Recently, vitamin D deficiency has been suggested as a possible dietary risk factor for dyslipidemia. Despite the high prevalence of vitamin D deficiency amongst children, virtually no studies have evaluated the association between vitamin D and dyslipidemia among children. We evaluated the vitamin D and dyslipidemia relationship among 240 children and adolescents aged 2 through 21 years who were outpatients of a pediatric endocrinology unit at a large tertiary care facility in Western Massachusetts from April 2008 to April 2010. Eligible children were …