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The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy

Heart (British Cardiac Society), 2016-08, Vol.102 (16), p.1309-1314

2016

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Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease

Life (Basel, Switzerland), 2023-05, Vol.13 (5), p.1213

2023

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Autophagosome maturation is impaired in Fabry disease

Autophagy, 2010-07, Vol.6 (5), p.589-599

2010

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Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy

Swiss medical weekly, 2017-10, Vol.147 (4142), p.w14517

2017

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Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition

Arteriosclerosis, thrombosis, and vascular biology, 2006-04, Vol.26 (4), p.839-844

2006

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Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy

Heart (British Cardiac Society), 2024-08, Vol.110 (15), p.997-1004

2024

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Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.173-178

2022

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Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease

Translational research : the journal of laboratory and clinical medicine, 2023-08, Vol.258, p.47-59

2023

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Hypermobile Ehlers‐Danlos‐like syndrome in Fabry disease

Clinical genetics, 2019-05, Vol.95 (5), p.627-628

2019

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Chaperone molecules: The example of Fabry disease

Néphrologie & thérapeutique, 2021-04, Vol.17S, p.S11

2021

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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.326-333

2020

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MEDICAL TREATMENT OF CYSTINURIA: CRITICAL REAPPRAISAL OF LONG-TERM RESULTS

The Journal of urology, 2000-05, Vol.163 (5), p.1419-1423

2000

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Fabry in the older patient: Clinical consequences and possibilities for treatment

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.319-325

2016

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Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease

European heart journal, 2010-01, Vol.31 (1), p.67-76

2010

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Thoracic Aortic Dilation/Aneurysm in Fabry Disease

The American journal of medicine, 2013-12, Vol.126 (12), p.e23-e23

2013

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Long-term Outcomes of Kidney Transplantation in Fabry Disease

Transplantation, 2018-11, Vol.102 (11), p.1924-1933

2018

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Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?

The American journal of clinical nutrition, 2018-08, Vol.108 (2), p.292-299

2018

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Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

European journal of medical genetics, 2020-02, Vol.63 (2), p.103703-103703, Article 103703

2020

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Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

Journal of bone and mineral metabolism, 2019-03, Vol.37 (2), p.378-383

2019

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MR imaging as a specific diagnostic tool for bilateral microcysts in chronic lithium nephropathy

Kidney international, 2012-03, Vol.81 (6), p.601-601

2012

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Aortic remodelling in Fabry disease

European heart journal, 2010-02, Vol.31 (3), p.347-353

2010

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Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome

Renal failure, 2013-07, Vol.35 (6), p.866-868

2013

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ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention

American journal of kidney diseases, 2004-11, Vol.44 (5), p.799-805

2004

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Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease

Acta pædiatrica (Oslo), 2006-04, Vol.95 (451), p.63-68

2006

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Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra

Journal of nephrology, 2023-12, Vol.36 (9), p.2651-2653

2023

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The value of ECG parameters as markers of treatment response in Fabry cardiomyopathy

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease

Autophagosome maturation is impaired in Fabry disease

Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy

Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition

Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy

Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity

Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease

Hypermobile Ehlers‐Danlos‐like syndrome in Fabry disease

Chaperone molecules: The example of Fabry disease

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

MEDICAL TREATMENT OF CYSTINURIA: CRITICAL REAPPRAISAL OF LONG-TERM RESULTS

Fabry in the older patient: Clinical consequences and possibilities for treatment

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease

Thoracic Aortic Dilation/Aneurysm in Fabry Disease

Long-term Outcomes of Kidney Transplantation in Fabry Disease

Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?

Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males

Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual

MR imaging as a specific diagnostic tool for bilateral microcysts in chronic lithium nephropathy

Aortic remodelling in Fabry disease

Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome

ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention

Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease

Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra

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