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“Real-world” evaluation of AcceleDent

American journal of orthodontics and dentofacial orthopedics, 2017-04, Vol.151 (4), p.633-635

2017

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Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Internal medicine journal, 2019-05, Vol.49 (5), p.578-591

2019

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The definition of neuronopathic Gaucher disease

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1056-1059

2020

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Refinement of protein structure homology models via long, all-atom molecular dynamics simulations

Proteins, structure, function, and bioinformatics, 2012-08, Vol.80 (8), p.2071-2079

2012

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Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.122-129

2017

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Journal of medical genetics, 2017-04, Vol.54 (4), p.288

2017

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2023 ACR/EULAR antiphospholipid syndrome classification criteria

Annals of the rheumatic diseases, 2023-10, Vol.82 (10), p.1258

2023

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Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

PloS one, 2015-08, Vol.10 (8), p.e0134341-e0134341

2015

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Symptoms Have Modest Accuracy in Detecting Endoscopic and Histologic Remission in Adults With Eosinophilic Esophagitis

Gastroenterology (New York, N.Y. 1943), 2016-03, Vol.150 (3), p.581-590.e4

2016

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Development and Validation of a Symptom-Based Activity Index for Adults With Eosinophilic Esophagitis

Gastroenterology (New York, N.Y. 1943), 2014-12, Vol.147 (6), p.1255-1266.e21

2014

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Assessment of the utility of contact‐based restraints in accelerating the prediction of protein structure using molecular dynamics simulations

Protein science, 2016-01, Vol.25 (1), p.19-29

2016

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Development of a New International Antiphospholipid Syndrome Classification Criteria Phase I/II Report: Generation and Reduction of Candidate Criteria

Arthritis care & research (2010), 2021-10, Vol.73 (10), p.1490-1501

2021

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Evolution favors protein mutational robustness in sufficiently large populations

BMC biology, 2007-07, Vol.5 (1), p.29-29, Article 29

2007

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Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

Human molecular genetics, 2017-03, Vol.26 (6), p.1182-1192

2017

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An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S125-S125

2022

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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Lancet neurology, 2021-12, Vol.20 (12), p.1027-1037

2021

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Two years of venglustat combined with imiglucerase shows continued positive effects on neurological features and brain connectivity in adults with Gaucher disease type 3

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107024, Article 107024

2023

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Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107306, Article 107306

2023

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Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Journal of medical genetics, 2024-06, Vol.61 (6), p.520

2024

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Eosinophilic oesophagitis: relationship of quality of life with clinical, endoscopic and histological activity

Alimentary pharmacology & therapeutics, 2015-10, Vol.42 (8), p.1000-1010

2015

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eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study

Genetics in medicine, 2022-03, Vol.24 (3), p.S91-S92

2022

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Peanut Consumption in Infants at Risk for Peanut Allergy

The New England journal of medicine, 2015-05, Vol.372 (22), p.2163-2166

2015

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P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51

Genetics in Medicine Open, 2023, Vol.1 (1), p.100016, Article 100016

2023

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Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107027, Article 107027

2023

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“Real-world” evaluation of AcceleDent

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

The definition of neuronopathic Gaucher disease

Refinement of protein structure homology models via long, all-atom molecular dynamics simulations

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

2023 ACR/EULAR antiphospholipid syndrome classification criteria

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

Symptoms Have Modest Accuracy in Detecting Endoscopic and Histologic Remission in Adults With Eosinophilic Esophagitis

Development and Validation of a Symptom-Based Activity Index for Adults With Eosinophilic Esophagitis

Assessment of the utility of contact‐based restraints in accelerating the prediction of protein structure using molecular dynamics simulations

Development of a New International Antiphospholipid Syndrome Classification Criteria Phase I/II Report: Generation and Reduction of Candidate Criteria

Evolution favors protein mutational robustness in sufficiently large populations

Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Two years of venglustat combined with imiglucerase shows continued positive effects on neurological features and brain connectivity in adults with Gaucher disease type 3

Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study

Eosinophilic oesophagitis: relationship of quality of life with clinical, endoscopic and histological activity

eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study

Peanut Consumption in Infants at Risk for Peanut Allergy

P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51

Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study

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