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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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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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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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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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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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Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ?

Revue médicale suisse, 2020, Vol.16 (709), p.1886-1890

2020

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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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Clinical characteristics and demographics in patients 50years 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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Long-term outcomes of kidney transplantation in Fabry disease

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S108-S108

2018

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Fabry nephropathy: 5 years of enzyme replacement therapy--a short review

Clinical kidney journal, 2008-02, Vol.1 (1), p.11-19

2008

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[b]Erreurs[/b] innées du métabolisme : transition enfant-adulte

Revue médicale suisse, 2015, Vol.11 (462), p.445-449

2015

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Fabry disease genotype, phenotype and amenability: A full country overview

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S110-S111

2019

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Intrafamilial coherence of clinical symptoms in Fabry disease

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S58-S58

2014

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L’interniste face aux maladies rares:quand y penser? L’exemple des maladies mitochondriales

Revue médicale suisse, 2017, Vol.13 (546), p.159-163

2017

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Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

Respiration, 2017-01, Vol.94 (1), p.2-13

2017

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

Autophagosome maturation is impaired in Fabry disease

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

Thoracic Aortic Dilation/Aneurysm in Fabry Disease

Long-term Outcomes of Kidney Transplantation in Fabry Disease

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

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

ESRD caused by nephrolithiasis: Prevalence, mechanisms, and prevention

Hypertrophie ventriculaire gauche isolée : et si c’était une maladie de Fabry ?

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

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

Long-term outcomes of kidney transplantation in Fabry disease

Fabry nephropathy: 5 years of enzyme replacement therapy--a short review

[b]Erreurs[/b] innées du métabolisme : transition enfant-adulte

Fabry disease genotype, phenotype and amenability: A full country overview

Intrafamilial coherence of clinical symptoms in Fabry disease

L’interniste face aux maladies rares:quand y penser? L’exemple des maladies mitochondriales

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

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