Christine Vianey-Saban - Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Hospices Civils de Lyon

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论文共 84 篇作者统计合作学者相似作者

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Quality Control and Quality Assurance in Biochemical Genetics Laboratory Testing

George J. G. Ruijter,Christine Vianey-Saban

Laboratory Guide to the Methods in Biochemical Geneticspp.15-34, (2024)

引用0浏览0引用

Improving Diagnosis of Mitochondrial Fatty-Acid Oxidation Disorders

Christine Vianey-Saban,Alain Fouilhoux,Jerry Vockley,Cécile Acquaviva-Bourdain,Nathalie Guffon

European Journal of Human Genetics（2023）

引用4浏览0WOSNATURE引用

Fifty Years of Research on Mitochondrial Fatty Acid Oxidation Disorders: the Remaining Challenges

Christine Vianey-Saban,Nathalie Guffon,Alain Fouilhoux,Cecile Acquaviva

JOURNAL OF INHERITED METABOLIC DISEASE（2023）

引用10浏览0WOS引用

Disorders of Riboflavin Metabolism

Christine Vianey-Saban,Cécile Acquaviva,Annet M. Bosch

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseasespp.547-562, (2022)

引用56浏览0引用

The Role of ERNDIM Diagnostic Proficiency Schemes in Improving the Quality of Diagnostic Testing for Inherited Metabolic Diseases

Deborah Mathis, Joanne Croft,Petr Chrastina,Brian Fowler,Christine Vianey-Saban,George J. G. Ruijter

Journal of inherited metabolic disease（2022）

引用3浏览0WOS引用

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,Claire Douillard,Christine Vianey-Saban

Molecular Genetics and Metabolism（2021）

引用10浏览0WOS引用

Three Cases of Adult-Onset Brown-Vialetto-Van Laere Syndrome: Novel Variants in SLC52A3 Gene and MRI Abnormalities

Guillaume Carey,Gregory Kuchcinski, Fanny Gauvrit,Luc Defebvre,Sylvie Nguyen,Claire-Marie Dhaenens,Anne Frederique Dessein,Christine Vianey-Saban,Cecile Acquaviva,Celine Tard

Neuromuscular Disordersno. 8 (2021): 752-755

引用6浏览0WOS引用

Collaboration Between Academics, Small Pharmaceutical Company and Patient Organizations in the Development of a New Formulation of Cysteamine in Nephropathic Cystinosis: A Successful Story

Segolene Gaillard,Laurent Roche,Georges Deschenes,Denis Morin,Christine Vianey-Saban,Cecile Acquaviva-Bourdain,Patrice Nony,Fabien Subtil,Catherine Mercier,Pierre Cochat,Aurelia Bertholet-Thomas,Catherine Cornu,Behrouz Kassai

Therapiesno. 2 (2020): 169-173

引用1浏览0WOS引用

Adherence to Cysteamine in Nephropathic Cystinosis: A Unique Electronic Monitoring Experience for a Better Understanding. A Prospective Cohort Study: CrYSTobs

Hospices Civils de Lyon, Service de Biostatistique,Lemoine Sandrine,Deschênes Georges,Morin Denis,Vianey-Saban Christine,Acquaviva-Bourdain Cécile,Ranchin Bruno,Bacchetta Justine,Bodénan Eurielle, Rouges Cécile, Zarrabian Setareh,Cochat Pierre,Bertholet-Thomas Aurélia

Pediatric Nephrology（2020）

引用7浏览0WOS引用

Neuropsychological and Neuroanatomical Phenotype in 17 Patients with Cystinosis

Aurore Curie,Nathalie Touil,Ségolène Gaillard,Damien Galanaud,Nicolas Leboucq,Georges Deschênes,Denis Morin,Fanny Abad,Jacques Luauté,Eurielle Bodenan,Laurent Roche,Cécile Acquaviva,Christine Vianey-Saban,Pierre Cochat,François Cotton,Aurélia Bertholet-Thomas

Orphanet Journal of Rare Diseases（2020）

引用8浏览0WOS引用

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