Christine Saban-Vianey

Groupement Hospitalier Est
Lyon, France

Last Updated: 09/26/2026

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Found 50 publications

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

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.

Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.

Journal: Journal of inherited metabolic disease

Published: March 21, 2023

Improving diagnosis of mitochondrial fatty-acid oxidation disorders.

Improving diagnosis of mitochondrial fatty-acid oxidation disorders.

Journal: European journal of human genetics : EJHG

Published: April 14, 2022

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

Journal: Journal of inherited metabolic disease

Published: February 07, 2022

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.

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.

Journal: Molecular genetics and metabolism

Published: December 09, 2020

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.

Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.

Journal: Neuromuscular disorders : NMD

Published: August 04, 2020

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.

Adherence to cysteamine in nephropathic cystinosis: A unique electronic monitoring experience for a better understanding. A prospective cohort study: CrYSTobs.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 20, 2020

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Journal: Molecular genetics and metabolism reports

Published: January 30, 2020

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Journal: Therapie

Published: September 16, 2019

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism.

Journal: Molecular genetics and metabolism reports

Published: July 15, 2019

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.

Journal: Orphanet journal of rare diseases

Published: January 07, 2019

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2018

Showing 1-12 of 50

Last Updated: 09/26/2026