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
Christine Vianey‐Saban
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165Publications signalées
5900Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Metabolism and Genetic DisordersMitochondrial Function and PathologyBiochemical and Molecular ResearchDiet and metabolism studiesPeroxisome Proliferator-Activated Receptors
Publications récentes
Quality Control and Quality Assurance in Biochemical Genetics Laboratory Testing
George J. G. Ruijter, Christine Vianey‐Saban
0 citations
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges
Christine Vianey‐Saban, Nathalie Guffon, Alain Fouilhoux, Cécile Acquaviva
33 citationsJournal of Inherited Metabolic Disease
Improving diagnosis of mitochondrial fatty-acid oxidation disorders
Christine Vianey‐Saban, Alain Fouilhoux, Jerry Vockley, Cécile Acquaviva et autres
18 citationsEuropean Journal of Human Genetics
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
Déborah Mathis, Joanne Croft, Petr Chrastina, Brian Fowler et autres
10 citationsJournal of Inherited Metabolic Disease
Correction to: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Nenad Blau, Carlo Dionisi‐Vici, Carlos R. Ferreira, Christine Vianey‐Saban et autres
5 citations
Disorders of Riboflavin Metabolism
Christine Vianey‐Saban, Cécile Acquaviva, Annet M. Bosch
5 citations
Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities
Guillaume Carey, Grégory Kuchcinski, F. Gauvrit, Luc Defebvre et autres
11 citationsNeuromuscular Disorders
Clinical outcomes in a series of 18 patients with long chain fatty acids oxidation disorders treated with triheptanoin for a median duration of 22 months
Nathalie Guffon, Fanny Mochel, Manuel Schiff, Pascale de Lonlay et autres
17 citationsMolecular Genetics and Metabolism
Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs
Ségolène Gaillard, Laurent Roche, Sandrine Lemoine, Georges Deschênes et autres
14 citationsPediatric Nephrology
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Monique Piraud, Magali Pettazzoni, Marie De Antonio, Christine Vianey‐Saban et autres
29 citationsMolecular Genetics and Metabolism Reports
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud et autres
19 citationsOrphanet Journal of Rare Diseases
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