Yann Nadjar

Paris, France

Last Updated: 09/26/2026

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Found 59 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

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

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Vitamin-Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy.

Journal: Journal of inherited metabolic disease

Published: December 06, 2025

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Journal: Journal of inherited metabolic disease

Published: October 31, 2025

Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction.

Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction.

Journal: The American journal of gastroenterology

Published: October 27, 2025

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

Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).

Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).

Journal: Stem cell research

Published: June 12, 2025

Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.

Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 26, 2025

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Journal: Journal of inherited metabolic disease

Published: May 19, 2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Journal: Frontiers in neurology

Published: May 05, 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

Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.

Genetic diseases misdiagnosed as multiple sclerosis: Observational study and review of literature.

Journal: Multiple sclerosis and related disorders

Published: February 16, 2025

Showing 1-12 of 59

Last Updated: 09/26/2026