Soumeya Bekri

Rouen, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 113 publications

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

Journal: Journal of internal medicine

Published: February 28, 2026

Tocilizumab for severe and refractory mucous membrane pemphigoid.

Tocilizumab for severe and refractory mucous membrane pemphigoid.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: December 04, 2025

Longitudinal multi-omics profiling of spinal muscular atrophy.

Longitudinal multi-omics profiling of spinal muscular atrophy.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: November 28, 2025

Exploring a plasma proteomic biosignature associated with cardiac involvement in Fabry disease.

Exploring a plasma proteomic biosignature associated with cardiac involvement in Fabry disease.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: November 25, 2025

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Journal: Journal of neuromuscular diseases

Published: October 21, 2025

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases.

Journal: Communications medicine

Published: September 16, 2025

Clinical and metabolic phenotyping of continuous versus intermittent ENteral NUTrition in ventilated adults with shock: ENNUT trial protocol.

Clinical and metabolic phenotyping of continuous versus intermittent ENteral NUTrition in ventilated adults with shock: ENNUT trial protocol.

Journal: BMJ open

Published: August 01, 2025

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.

Journal: Orphanet journal of rare diseases

Published: July 21, 2025

Plasma Metabolic and Inflammatory Protein Signatures in Psychiatric Disorders.

Plasma Metabolic and Inflammatory Protein Signatures in Psychiatric Disorders.

Journal: International journal of molecular sciences

Published: May 24, 2025

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.

Journal: Molecular genetics and metabolism

Published: March 29, 2025

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Journal: Orphanet journal of rare diseases

Published: March 25, 2025

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades.

Journal: Journal of inherited metabolic disease

Published: January 30, 2025

Showing 1-12 of 113

Last Updated: 09/26/2026