Karelle Benistan Selected Research

Collagen

11/2022

Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2.

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Karelle Benistan Research Topics

Disease

4	Fabry Disease (Fabry's Disease) 12/2013 - 09/2006
2	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 12/2013 - 02/2012
2	Proteinuria 03/2007 - 03/2007
1	COVID-19 03/2023
1	Rheumatic Diseases (Rheumatism) 03/2023
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 11/2022
1	Muscle Hypotonia (Hypotonia) 11/2022
1	Scoliosis 11/2022
1	Familial Hyperphosphatemic Tumoral Calcinosis 01/2016
1	Acidosis 01/2016
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2007
1	Chronic Renal Insufficiency 03/2007

Drug/Important Bio-Agent (IBA)

2	alpha-Galactosidase (Beano)IBA 02/2012 - 09/2006
2	GlycosphingolipidsIBA 02/2012 - 09/2006
2	agalsidase beta FDA Link 03/2010 - 03/2007
1	Antiviral Agents (Antivirals)IBA 03/2023
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 03/2023
1	CollagenIBA 11/2022
1	sodium thiosulfate FDA Link 01/2016
1	GalactosidasesIBA 12/2013
1	Biomarkers (Surrogate Marker)IBA 03/2007
1	EnzymesIBA 03/2007

Therapy/Procedure

2	Therapeutics 03/2023 - 03/2007
2	Enzyme Replacement Therapy 02/2012 - 03/2010