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Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Scientific reports, 2021-11, Vol.11 (1), p.22372-22372, Article 22372

2021

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Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study

Endocrine, 2022-03, Vol.75 (3), p.728-739

2022

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Iron overload associated symptoms and laboratory changes in the Swiss Haemochromatosis Cohort – when a clinician should become attentive

Swiss medical weekly, 2020-07, Vol.150 (2930), p.w20294

2020

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COVID-19 in Fabry disease: a reference center prospective study

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-250, Article 250

2022

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The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Molecular genetics and metabolism reports, 2019-06, Vol.19, p.100454-100454, Article 100454

2019

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Clinical Utility of Procalcitonin in the Diagnosis of Pneumonia

Clinical chemistry (Baltimore, Md.), 2019-12, Vol.65 (12), p.1532-1542

2019

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Effectiveness of low-dose iron treatment in non-anaemic iron-deficient women: a prospective open-label single-arm trial

Swiss medical weekly, 2023-05, Vol.153 (5), p.40079

2023

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Prognostic value and link to atrial fibrillation of soluble Klotho and FGF23 in hemodialysis patients

PloS one, 2014-07, Vol.9 (7), p.e100688-e100688

2014

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The magnitude of the plasma hepcidin response to oral iron supplements depends on the iron dosage

Swiss medical weekly, 2024-02, Vol.154 (2), p.3635

2024

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Stoffwechselkrankheiten

Therapeutische Umschau, 2018-11, Vol.75 (4), p.197-197

Nowak, Albina

2018

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Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review

Frontiers in psychiatry, 2022-03, Vol.13, p.829128-829128

2022

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Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease

Biomedicines, 2024-08, Vol.12 (8), p.1724

2024

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Swiss Delphi study on iron deficiency

Swiss medical weekly, 2019-07, Vol.149, p.w20097

2019

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Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study

Sleep & breathing, 2020-03, Vol.24 (1), p.95-101

2020

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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

International journal of molecular sciences, 2024-04, Vol.25 (8), p.4299

2024

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Effect and Clinical Prediction of Worsening Renal Function in Acute Decompensated Heart Failure

The American journal of cardiology, 2011-03, Vol.107 (5), p.730-735

2011

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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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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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Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients

Journal of clinical medicine, 2021-03, Vol.10 (5), p.1093

2021

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The frequent and underrecognised co-occurrence of acute exacerbated COPD and depression warrants screening: a systematic review

European respiratory review, 2017-06, Vol.26 (144), p.170026

2017

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Direct Comparison of Three Natriuretic Peptides for Prediction of Short- and Long-term Mortality in Patients With Community-Acquired Pneumonia

Chest, 2012-04, Vol.141 (4), p.974-982

2012

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.57-61

2017

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Corrigendum to ‘Single-dose psilocybin-assisted therapy in major depressive disorder: a placebo-controlled, double-blind, randomised clinical trial’

EClinicalMedicine, 2023-02, Vol.56, p.101841-101841, Article 101841

2023

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Relationship of Vessel Density to Vessel Length Density in Patients with Treated Fabry Disease

Diagnostics (Basel), 2023-03, Vol.13 (7), p.1227

2023

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Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study

Iron overload associated symptoms and laboratory changes in the Swiss Haemochromatosis Cohort – when a clinician should become attentive

COVID-19 in Fabry disease: a reference center prospective study

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Clinical Utility of Procalcitonin in the Diagnosis of Pneumonia

Effectiveness of low-dose iron treatment in non-anaemic iron-deficient women: a prospective open-label single-arm trial

Prognostic value and link to atrial fibrillation of soluble Klotho and FGF23 in hemodialysis patients

The magnitude of the plasma hepcidin response to oral iron supplements depends on the iron dosage

Stoffwechselkrankheiten

Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review

Dynamics of Leukocyte Telomere Length in Patients with Fabry Disease

Swiss Delphi study on iron deficiency

Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

Effect and Clinical Prediction of Worsening Renal Function in Acute Decompensated Heart Failure

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

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

Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients

The frequent and underrecognised co-occurrence of acute exacerbated COPD and depression warrants screening: a systematic review

Direct Comparison of Three Natriuretic Peptides for Prediction of Short- and Long-term Mortality in Patients With Community-Acquired Pneumonia

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Corrigendum to ‘Single-dose psilocybin-assisted therapy in major depressive disorder: a placebo-controlled, double-blind, randomised clinical trial’

Relationship of Vessel Density to Vessel Length Density in Patients with Treated Fabry Disease

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