Publications by authors named "Hatim Ebrahim"

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Early renal failure in childhood in a male with Fabry disease.
Josephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, Uma Ramaswami

BMJ Case Rep· May 2022

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A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.
Khalid Al-Thihli, Hatim Ebrahim, Derralynn A Hughes, Millan Patel, Marion Tipple

Gene· April 2012

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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).
Hatim Y Ebrahim, Robert J Baker, Atul B Mehta, Derralynn A Hughes

J Inherit Metab Dis· March 2012

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Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.
Perry Elliott, Robert Baker, Ferdinando Pasquale, Giovanni Quarta, Hatim Ebrahim

Heart· December 2011

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Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.
Petros Syrris, Deirdre Ward, Angeliki Asimaki, Srijita Sen-Chowdhry, Hatim Y Ebrahim

Circulation· January 2006

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