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

Circulation (New York, N.Y.), 2006-01, Vol.113 (3), p.356-364

2006

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

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107088, Article 107088

2023

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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)

Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.325-334

2012

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

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107032, Article 107032

2023

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

Heart (British Cardiac Society), 2011-12, Vol.97 (23), p.1957-1960

2011

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

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107922, Article 107922

2024

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Early renal failure in childhood in a male with Fabry disease

BMJ case reports, 2022-05, Vol.15 (5), p.e246682

2022

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

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S95-S96

2020

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

Internal medicine journal, 2021-10, Vol.51 (10), p.1580-1593

2021

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

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S51-S51

2019

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Heterogeneity in Fabry disease

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S81-S81

2017

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

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S56-S57

2015

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

Gene, 2012-04, Vol.497 (2), p.320-322

2012

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

Experimental nephrology, 1999-01, Vol.7 (1), p.26-34

1999

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Columnar lined oesophagus (CLO)- a tissue culture model for basement membrane manipulation

Gastroenterology (New York, N.Y. 1943), 2003-04, Vol.124 (4), p.A408-A409

2003

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

Ebrahim, Hatim Yusufali

2008

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

Ebrahim, Hatim Y

2008

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

Carbohydrate research, 1996-06, Vol.286, p.189-196

1996

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

Kidney international, 1998-04, Vol.53 (4), p.932-936

1998

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The role of biotinidase in the intestinal uptake of biotin

Ebrahim, Hatim Yusufali

1986

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Protective efficacy of thymoquinone or ebselen separately against arsenic-induced hepatotoxicity in rat

Environmental science and pollution research international, 2021-02, Vol.28 (5), p.6195-6206

2021

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Outcomes associated with tocilizumab with or without corticosteroid versus dexamethasone for treatment of patients with severe to critical COVID-19 pneumonia

Journal of infection and public health, 2022-01, Vol.15 (1), p.36-41

2022

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Computer Numerical Control CNC Machine Health prediction using multi-domain feature extraction and Deep Neural Network Regression

Journal of Engineering Research, 2022-12

2022

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Unlucky patient combining two rarities: sigmoid colon cancer mimicking appendicular abscess and pseudomembranous colitis involving the small bowel

International Surgery Journal, 2018-03, Vol.5 (4), p.1552

2018

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Phytochemical Screening, Antimicrobial and Antioxidant Activities of Punica Grantum Peel

Open Access Journal of Chemistry, 2020, Vol.4 (2), p.11-14

2020

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

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

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

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

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

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

Early renal failure in childhood in a male with Fabry disease

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

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

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

Heterogeneity in Fabry disease

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

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

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

Columnar lined oesophagus (CLO)- a tissue culture model for basement membrane manipulation

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)

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

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

The role of biotinidase in the intestinal uptake of biotin

Protective efficacy of thymoquinone or ebselen separately against arsenic-induced hepatotoxicity in rat

Outcomes associated with tocilizumab with or without corticosteroid versus dexamethasone for treatment of patients with severe to critical COVID-19 pneumonia

Computer Numerical Control CNC Machine Health prediction using multi-domain feature extraction and Deep Neural Network Regression

Unlucky patient combining two rarities: sigmoid colon cancer mimicking appendicular abscess and pseudomembranous colitis involving the small bowel

Phytochemical Screening, Antimicrobial and Antioxidant Activities of Punica Grantum Peel

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