Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban et autres
0 citationsJournal of Inherited Metabolic Disease
Yann Nadjar
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101Publications signalées
1533Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchRNA regulation and diseaseMitochondrial Function and PathologyMetabolism and Genetic DisordersGenetic Neurodegenerative Diseases
Publications récentes
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Maria Makrygianni, Cécile Pagan, Antony Citterio-Quentin, Isabelle Rouvet et autres
0 citationsAnnals of Clinical and Translational Neurology
2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C
Tarekegn Hiwot, Forbes D. Porter, Tatiana Brémovà-Ertl, U Ramaswami et autres
3 citationsJournal of Inherited Metabolic Disease
Patient journey and burden of type 3 Gaucher disease in France: A retrospective chart review study
Laurence Djatche, Yann Nadjar, Laurence Watier, Leila Alaoui Sosse et autres
0 citationsMolecular Genetics and Metabolism
Mechanisms of spinal motor neuron dysfunction in late-onset GM2 gangliosidosis
Gorka Fernandez-Eulate, Fiorella C. Grandi, Giulia Dingeo, Catherine Caillaud et autres
0 citationsMolecular Genetics and Metabolism
Espacement de fréquence d’administration d’enzymothérapie dans la maladie de Gaucher de type 1 : un essai émulé séquentiel à partir du registre national français
Maxime Beydon, Jérôme Stirnemann, K. Yousfi, S. Zebiche et autres
0 citationsLa Revue de Médecine Interne
Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review
Justin Simo, Heather M. Lugar, Elka Miller, Adi Wilf‐Yarkoni et autres
2 citationsFrontiers in Neurology
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease
Fabrice Camou, J. Serratrice, Magali Pettazzoni, Yann Nadjar et autres
1 citationOrphanet Journal of Rare Diseases
Chronic intestinal pseudo-obstruction: The impact of genetic and histological analyses on improving patient diagnosis, prognosis, and treatment strategies
Minh-Chau Ta, Dominique Cazals‐Hatem, L. Billiauws, Aurélien Amiot et autres
0 citationsClinical Nutrition ESPEN
Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature
Daniele Mandia, Charline Benoit, Tanya Stojkovic, Yann Nadjar
2 citationsJournal of the Peripheral Nervous System
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)
Gorka Fernández‐Eulate, Céline Banal, Solène Renault, Nathalie Lefort et autres
0 citationsStem Cell Research
ARSA Variants Associated With Cognitive Decline and Long‐Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H. Schoenmakers, Francesca Fumagalli, Samuel Groeschel et autres
2 citationsJournal of Inherited Metabolic Disease
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