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

Swiss medical weekly, 2017-10, Vol.147, 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

2006

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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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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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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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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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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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Molécules chaperons : exemple de la maladie de Fabry

Néphrologie & thérapeutique, 2021-04, Vol.17, p.S11-S22

2021

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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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Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

PloS one, 2017-07, Vol.12 (7), p.e0180437-e0180437

2017

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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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Chaperone molecules: The example of Fabry disease

Néphrologie & thérapeutique, 2021-04, Vol.17S, p.S11-S22

2021

Volltextzugriff (PDF)

Aortic remodelling in Fabry disease

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

2010

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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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Traitement de la maladie de Fabry : succès, échecs, espoirs

Néphrologie & thérapeutique, 2016-04, Vol.12, p.S105-S113

2016

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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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Clinical characteristics and demographics in patients 50 years and older in the Fabry Outcome Survey (FOS)

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S73-S74

2016

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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

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

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

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

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

Thoracic Aortic Dilation/Aneurysm in Fabry Disease

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

Molécules chaperons : exemple de la maladie de Fabry

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

Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

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

Chaperone molecules: The example of Fabry disease

Aortic remodelling in Fabry disease

ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention

Traitement de la maladie de Fabry : succès, échecs, espoirs

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

Clinical characteristics and demographics in patients 50 years and older in the Fabry Outcome Survey (FOS)

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