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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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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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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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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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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

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

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

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

Autophagosome maturation is impaired in Fabry disease

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

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

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

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

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