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Stéphane Lourdel Selected Research

Dent disease 1

1/2021Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.
1/2018A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.
8/2015Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

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Stéphane Lourdel Research Topics

Disease

3Dent disease 1
01/2021 - 08/2015
2Acidosis
01/2020 - 06/2011
2type 3 Bartter syndrome
06/2015 - 09/2014
2Bartter Syndrome (Syndrome, Bartter)
06/2015 - 09/2013
2Dent Disease
02/2012 - 11/2009
1Cystic Fibrosis (Mucoviscidosis)
07/2016
1Dent Disease 2
08/2015
1SeSAME syndrome
06/2011
1Ataxia (Dyssynergia)
06/2011
1Deafness (Deaf Mutism)
06/2011
1Epilepsy (Aura)
06/2011
1Alkalosis
06/2011
1Ascites
12/2005
1Nephrosis
12/2005
1Nephrotic Syndrome (Syndrome, Nephrotic)
12/2005
1Albuminuria
12/2005
1Osteopetrosis
07/2005
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
07/2005
1Kidney Calculi (Kidney Stone)
07/2005

Drug/Important Bio-Agent (IBA)

3Protons (Proton)IBA
01/2021 - 11/2009
3ChloridesIBA
01/2018 - 11/2009
3SaltsIBA
09/2014 - 06/2011
2Glutamic Acid (Glutamate)FDA Link
01/2021 - 01/2018
2Chloride Channels (Chloride Channel)IBA
07/2016 - 06/2015
2Proteins (Proteins, Gene)FDA Link
02/2012 - 07/2005
1Ammonium CompoundsIBA
01/2020
1AcidsIBA
01/2020
1AmmoniaIBA
01/2020
1Bicarbonates (Hydrogen Carbonate)IBA
01/2020
1LigandsIBA
07/2016
1NucleotidesIBA
07/2016
1Phospholipases A2 (Phospholipase A2)IBA
07/2016
1Cyclic AMP (AMP, Cyclic)IBA
07/2016
1Inositol Polyphosphate 5-PhosphatasesIBA
08/2015
1Hydrochlorothiazide (Esidrix)FDA LinkGeneric
06/2011
1AldosteroneIBA
12/2005
1Adrenal Cortex Hormones (Corticosteroids)IBA
12/2005
1PuromycinIBA
12/2005
1Puromycin AminonucleosideIBA
12/2005
1Adenosine Triphosphatases (ATPase)IBA
12/2005
1SodiumIBA
12/2005
1Epithelial Sodium ChannelsIBA
12/2005
1Amiloride (Midamor)FDA LinkGeneric
12/2005