Dominique P. Germain

Paris, France

Last Updated: 09/26/2026

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Found 94 publications

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Journal: Orphanet journal of rare diseases

Published: September 19, 2025

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.

Journal: Genetics in medicine open

Published: September 16, 2025

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.

Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.

Journal: Genetics in medicine open

Published: April 15, 2025

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease.

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease.

Journal: Molecular genetics & genomic medicine

Published: April 14, 2025

Cardiac manifestations of Fabry disease.

Cardiac manifestations of Fabry disease.

Journal: NPJ cardiovascular health

Published: January 05, 2025

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.

Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.

Journal: Biomedicines

Published: September 22, 2024

Prevalence of Fabry Disease in Patients on Dialysis in France.

Prevalence of Fabry Disease in Patients on Dialysis in France.

Journal: International journal of molecular sciences

Published: August 07, 2024

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension.

Journal: Nature communications

Published: July 24, 2024

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Journal: European journal of pain (London, England)

Published: March 12, 2024

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.

Journal: Frontiers in genetics

Published: March 03, 2024

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).

Journal: Orphanet journal of rare diseases

Published: January 02, 2024

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.

Journal: Circulation. Genomic and precision medicine

Published: December 04, 2023

Showing 1-12 of 94

Last Updated: 09/26/2026