Samia Pichard

Paris, France

Last Updated: 09/26/2026

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Found 52 publications

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Journal: Molecular genetics and metabolism

Published: April 08, 2026

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

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall.

Journal: Annals of clinical and translational neurology

Published: February 07, 2026

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Journal: JIMD reports

Published: January 22, 2026

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

Journal: Journal of inherited metabolic disease

Published: September 22, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 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

Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up.

Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up.

Journal: Journal of inherited metabolic disease

Published: December 19, 2024

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Acid sphingomyelinase deficiency in France: a retrospective survival study.

Journal: Orphanet journal of rare diseases

Published: February 06, 2024

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

Journal: Molecular genetics and metabolism

Published: July 04, 2023

Showing 1-12 of 52

Last Updated: 09/26/2026