Search Results - "Ebrahim, Hatim" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

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
Published in Circulation (New York, N.Y.) (24.01.2006)

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Journal Article

Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T)

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.
Published in Journal of inherited metabolic disease (01.03.2012)

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Journal Article

Assessments in female with hypertrophic cardiomyopathy: Incongruous indicators of Fabry disease with valuable lessons

Assessments in female with hypertrophic cardiomyopathy: Incongruous indicators of Fabry disease with valuable lessons

by Ebrahim, Hatim Y., Ramaswami, Uma
Published in Molecular genetics and metabolism (01.02.2023)

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Journal Article

Podocyturia correlates with reduced estimated glomerular filtration rate (eGFR) and increased albuminuria in Fabry disease (FD)

Podocyturia correlates with reduced estimated glomerular filtration rate (eGFR) and increased albuminuria in Fabry disease (FD)

by Bhat, Ritika, Obrisca, Bogdan, Ramaswami, Uma, Ebrahim, Hatim, Dastvan, Frank, Najafian, Behzad
Published in Molecular genetics and metabolism (01.02.2023)

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Journal Article

Changes in enzymatic activity of alpha galactosidase A in patients with Fabry disease treated with an oral chaperone therapy

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
Published in Molecular genetics and metabolism (01.02.2024)

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Journal Article

Early renal failure in childhood in a male with Fabry disease

Early renal failure in childhood in a male with Fabry disease

by Hogh, Josephine Norre, Ebrahim, Hatim, Moochhala, Shabbir, Ramaswami, Uma
Published in BMJ case reports (10.05.2022)

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Journal Article

Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey

Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey

by Elliott, Perry, Baker, Robert, Pasquale, Ferdinando, Quarta, Giovanni, Ebrahim, Hatim, Mehta, Atul B, Hughes, Derralynn A
Published in Heart (British Cardiac Society) (01.12.2011)

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Journal Article

Relative contribution of acid ceramidase and alfa-galactosidase a to lyso-Gb3 and severity in Fabry disease

Relative contribution of acid ceramidase and alfa-galactosidase a to lyso-Gb3 and severity in Fabry disease

by Lavalle, Lucia, Reed, Matthew, Raja, Hansika, Ebrahim, Hatim, Pina, Carmen Ganzaráin, Hughes, Derralynn
Published in Molecular genetics and metabolism (01.02.2020)

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Journal Article

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

Impact of SARS‐CoV‐2 (COVID‐19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre

by Ramaswami, Uma, D'Amore, Simona, Finnegan, Niamh, Hughes, Derralynn, Kazemi, Masoud
Published in Internal medicine journal (01.10.2021)

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Journal Article

Renal involvement in classical and late onset patients with Fabry disease and the role of co-existing pathologies

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.
Published in Molecular genetics and metabolism (01.02.2019)

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Journal Article

Heterogeneity in Fabry disease

Heterogeneity in Fabry disease

by Lavalle, Lucia, Thomas, Alison, Beaton, Brendan, Ebrahim, Hatim, Reed, Matthew, Ramaswami, Uma, Mehta, Atul, Hughes, Derralynn
Published in Molecular genetics and metabolism (01.01.2017)

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Journal Article

Inducible nitric oxide synthase induction in Thy 1 glomerulonephritis is complement and reactive oxygen species dependent

Inducible nitric oxide synthase induction in Thy 1 glomerulonephritis is complement and reactive oxygen species dependent

by Mosley, K, Waddington, S N, Ebrahim, H, Cook, T, Cattell, V
Published in Experimental nephrology (01.01.1999)

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Journal Article

Fabry disease: Impact of ERT on renal function. Single-center 5-year results

Fabry disease: Impact of ERT on renal function. Single-center 5-year results

by Hughes, Derralynn, Ramaswami, Uma, Mckie, Mark, Dimson, Erla, Baker, Robert, Ebrahim, Hatim, Richfield, Linda, Mehta, Atul
Published in Molecular genetics and metabolism (01.02.2015)

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Journal Article

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

by Al-Thihli, Khalid, Ebrahim, Hatim, Hughes, Derralynn A., Patel, Millan, Tipple, Marion, Salvarinova, Ramona, Gardiner, Jane, Vallance, Hilary, Waters, Paula J.
Published in Gene (15.04.2012)

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Journal Article

Genetic and functional studies of mutations affecting cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC)

Genetic and functional studies of mutations affecting cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC)

by Ebrahim, Hatim Yusufali
Year of Publication 2008

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Dissertation

Mixed-acetal glucopyranosides of 2-bromo- and 2-iodo-acetaldehyde by mild alkylation of lactol groups. Irreversible cross inhibition using a pair of glycosidases

Mixed-acetal glucopyranosides of 2-bromo- and 2-iodo-acetaldehyde by mild alkylation of lactol groups. Irreversible cross inhibition using a pair of glycosidases

by Ebrahim, Hatim, Evans, David J., Lehmann, Jochen, Ziser, Lothar
Published in Carbohydrate research (05.06.1996)

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Journal Article

Anti-GBM glomerulonephritis in mice lacking nitric oxide synthase type 2 Rapid Communication

Anti-GBM glomerulonephritis in mice lacking nitric oxide synthase type 2 Rapid Communication

by Cattell, Victoria, Cook, H. Terence, Ebrahim, Hatim, Waddington, Simon N., Wei, Xiao-qing, Assmann, Karel J.M., Liew, Foo Y.
Published in Kidney international (01.04.1998)

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Journal Article