Search Results - "EBRAHIM, Hatim Y"

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy by SYRRIS, Petros, WARD, Deirdre, ELLIOTT, Perry M, MCKENNA, William J, ASIMAKI, Angeliki, SEN-CHOWDHRY, Srijita, EBRAHIM, Hatim Y, EVANS, Alison, HITOMI, Nobuhiko, NORMAN, Mark, PANTAZIS, Antonios, SHAW, Anthony L

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by…”
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Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T) by Ebrahim, Hatim Y., Baker, Robert J., Mehta, Atul B., Hughes, Derralynn A.

“…The functional significance of missense mutations in genes encoding acid glycosidases of lysosomal storage disorders (LSDs) is not always clear. Here we…”
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Assessments in female with hypertrophic cardiomyopathy: Incongruous indicators of Fabry disease with valuable lessons by Ebrahim, Hatim Y., Ramaswami, Uma

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Changes in enzymatic activity of alpha galactosidase A in patients with Fabry disease treated with an oral chaperone therapy by Kugan, Mathura, D'Amore, Simona, Burke, Derek G., Mitra, Udita, Patel, Sneha, Mckie, Mark A., Cabides, Jasmen, Hughes, Derralynn, Ebrahim, Hatim Y., Heales, Simon, Ramaswami, Uma

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Renal involvement in classical and late onset patients with Fabry disease and the role of co-existing pathologies by Ebrahim, Hatim Y., Lavalle, Lucia, Beaton, Brendan, Reed, Matthew C., Moochhala, Shabbir, Ramaswami, Uma, Mehta, Atul, Hughes, Derralynn A.

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Genetic and functional studies of mutations affecting cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC) by Ebrahim, Hatim Y

“…ARVC is a cardiac disease associated with ventricular cardiomyocyte fibro-fatty replacement and sudden death. It presents with incomplete penetrance and…”
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