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fabry disease/obesitas
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Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
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The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry
[Early diagnosis of Fabry disease in children].
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Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-galactosidase A. The incidence, ranging from one over 40 000 to one over 11 7000 worldwide is probably underestimated due to its unspecific pattern of presentation. The symptoms, including
Engineered human Tmpk fused with truncated cell-surface markers: versatile cell-fate control safety cassettes.
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Cell-fate control gene therapy (CFCGT)-based strategies can augment existing gene therapy and cell transplantation approaches by providing a safety element in the event of deleterious outcomes. Previously, we described a novel enzyme/prodrug combination for CFCGT. Here, we present results employing
Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
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OBJECTIVE
Familial focal segmental glomerulosclerosis (FSGS) has been widely reported as having an underlining genetic component to its pathogenesis. Recently, mutations in TRPC6 and ACTN4 were identified to be associated with familial FSGS, however few studies have reported the mutation rates of
Native T1 reference values for nonischemic cardiomyopathies and populations with increased cardiovascular risk: A systematic review and meta-analysis.
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BACKGROUND
Although cardiac MR and T1 mapping are increasingly used to diagnose diffuse fibrosis based cardiac diseases, studies reporting T1 values in healthy and diseased myocardium, particular in nonischemic cardiomyopathies (NICM) and populations with increased cardiovascular risk, seem
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