J. Barth

发表

Ataluren treatment of patients with nonsense mutation dystrophinopathy

G. Comi, R. Finkel, B. Wong, 2014, Muscle & nerve.

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial.

S. Peltz, S. McColley, E. Kerem, 2014, The Lancet. Respiratory medicine.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

R. Schiffmann, D. Bichet, R. Giugliani, 2019, American journal of medical genetics. Part A.

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

H. Williams, B. Najafian, M. Mauer, 2017, Journal of Medical Genetics.

Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.

I. Olivotto, Damara N. Ortiz, K. Nicholls, 2020, Molecular genetics and metabolism.

A randomized placebo-controlled trial of ataluren for the treatment of nonsense mutation cystic fibrosis

S. Peltz, S. McColley, F. Accurso, 2014 .

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

D. Lockhart, J. Flanagan, C. Barlow, 2015, PloS one.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

R. Colvin, D. Bichet, R. Giugliani, 2019, Genetics in Medicine.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

D. Lockhart, B. Byrne, J. Flanagan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study)

C. Bodemer, A. Paller, D. Murrell, 2020, Orphanet Journal of Rare Diseases.

Rabeprazole‐based therapy in Helicobacter pylori eradication

W. Hahne, J. Barth, 2002 .

Seven‐day therapy for Helicobacter pylori in the United States

N. Vakil, H. Schwartz, F. Lanza, 2004, Alimentary pharmacology & therapeutics.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

R. Schiffmann, R. Colvin, D. Bichet, 2018, Orphanet Journal of Rare Diseases.

Improvement in gastrointestinal symptoms observed in the phase 3 FACETS (AT1001-011) study of migalastat in patients affected with Fabry disease

R. Schiffmann, W. Wilcox, D. Bichet, 2015 .

Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results

R. Schiffmann, W. Wilcox, D. Bichet, 2015 .

FABry Disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): A new Fabry disease-specific gastrointestinal outcomes instrument

A. Shields, A. Mulberg, Vivian Kessler, 2021, Quality of Life Research.

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

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Journal of Medical Genetics.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Genetics in Medicine.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

D. Lockhart, S. Packman, R. Schiffmann, 2016, The New England journal of medicine.

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report

Z. Prohászka, R. Kain, G. Sunder-Plassmann, 2019, Case reports in obstetrics and gynecology.

Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study

I. Narita, H. Lagast, T. Hamazaki, 2019, Clinical and Experimental Nephrology.

SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE

R. Schiffmann, W. Wilcox, D. Bichet, 2018 .

Low frequency of Fabry disease in patients with common heart disease

R. Schiffmann, N. McNeill, L. Sweetman, 2018, Genetics in Medicine.

Low frequency of Fabry disease in patients with common heart disease

R. Schiffmann, N. McNeill, E. Benjamin, 2017, Genetics in Medicine.

Rabeprazole is superior to omeprazole for the inhibition of peptone meal‐stimulated gastric acid secretion in Helicobacter pylori‐negative subjects

J. Pisegna, J. Walsh, T. Kovacs, 2003, Alimentary pharmacology & therapeutics.

THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY

S. Peltz, R. Abresch, C. McDonald, 2013, Muscle & nerve.

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

R. Finkel, B. Wong, S. Peltz, 2013, PloS one.

Percent-Predicted 6-Minute Walk Distance in Duchenne Muscular Dystrophy to Account for Maturational Influences

Jay J. Han, Alina Nicorici, Gary Elfring, 2012, PLoS currents.

PP3.3 – 1808 Disease-related symptoms and activities of daily living: a novel survey of patients with nonsense mutation Duchenne muscular dystrophy

G. Elfring, A. Reha, R. Spiegel, 2013 .

THE 6-MINUTE WALK TEST AND OTHER CLINICAL ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: RELIABILITY, CONCURRENT VALIDITY, AND MINIMAL CLINICALLY IMPORTANT DIFFERENCES FROM A MULTICENTER STUDY

S. Peltz, R. Abresch, C. McDonald, 2013, Muscle & nerve.

Long‐term prevention of erosive or ulcerative gastro‐oesophageal reflux disease relapse with rabeprazole 10 or 20 mg vs. placebo: results of a 5‐year study in the United States

C. Perdomo, J. Barth, A. Caos, 2005, Alimentary pharmacology & therapeutics.

Rabeprazole for the prevention of pathologic and symptomatic relapse of erosive or ulcerative gastroesophageal reflux disease

Y. Dayal, C. Perdomo, J. Barth, 2000, American Journal of Gastroenterology.

REVIEW: Efficacy of Rabeprazole Once Daily for Acid-Related Disorders

K. Bardhan, F. Lanza, C. Perdomo, 2001, Digestive Diseases and Sciences.

P4.10 The relationship of ataluren plasma concentration and response across clinical studies in nonsense mutation dystrophinopathy

R. Finkel, B. Wong, S. Peltz, 2011, Neuromuscular Disorders.

Review article: rabeprazole-based therapy in Helicobacter pylori eradication.

W. Hahne, J. Barth, 2002, Alimentary Pharmacology and Therapeutics.

Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study

C. Bodemer, A. Paller, D. Murrell, 2020, Orphanet Journal of Rare Diseases.