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Sandrine Marie Selected Research

Blood Proteins (Serum Proteins)

11/2019Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

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Sandrine Marie Research Topics

Disease

3Cystinosis
01/2023 - 01/2014
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2023 - 11/2019
2Intellectual Disability (Idiocy)
01/2009 - 07/2003
1Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
05/2024
1Nervous System Diseases (Neurological Disorders)
05/2024
1Dystonia (Limb Dystonia)
05/2024
1Hyperuricemia
05/2024
1Coma (Comas)
02/2024
1Hepatomegaly
02/2024
1Medium chain acyl CoA dehydrogenase deficiency
02/2024
1VLCAD deficiency
02/2024
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
02/2024
1Inborn Genetic Diseases (Disease, Hereditary)
02/2024
1Rhabdomyolysis
02/2024
1Cardiomegaly (Heart Hypertrophy)
02/2024
1Neutropenia
11/2023
1Proteinuria
01/2023
1COVID-19
01/2022
1Inflammation (Inflammations)
01/2022
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2022
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
10/2021
1Disease Progression
11/2019
1Fanconi Syndrome (Syndrome, Fanconi)
11/2019
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2016
12-Hydroxyglutaricaciduria
01/2015
1Tyrosinemias (Tyrosinemia)
11/2012
1Angelman Syndrome (Syndrome, Angelman)
01/2009
1Epilepsy (Aura)
01/2009
1Brain Diseases (Brain Disorder)
01/2009
1Blindness (Hysterical Blindness)
06/2004

Drug/Important Bio-Agent (IBA)

3Cystine (L-Cystine)IBA
01/2023 - 01/2014
2Oxidoreductases (Dehydrogenase)IBA
02/2024 - 01/2015
2Cysteamine (Mercaptamine)FDA Link
01/2023 - 11/2019
2purineIBA
01/2022 - 06/2004
2Adenylosuccinate lyase deficiencyIBA
01/2009 - 07/2003
1Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
05/2024
1Coenzyme A (CoA)IBA
02/2024
1Mitochondrial Trifunctional ProteinIBA
02/2024
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
02/2024
1Hypoglycemic Agents (Hypoglycemics)IBA
02/2024
1Fatty Acids (Saturated Fatty Acids)IBA
02/2024
1Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
02/2024
12- cyclohexylidenhydrazo- 4- phenyl- thiazoleIBA
02/2024
1Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA
02/2024
1Glucose (Dextrose)FDA LinkGeneric
11/2023
11,5-anhydroglucitolIBA
11/2023
1Sodium-Glucose Transporter 2 InhibitorsIBA
11/2023
11,5-anhydroglucitol-6-phosphateIBA
11/2023
1Proteins (Proteins, Gene)FDA Link
01/2023
1Adenylosuccinate Synthase (Synthase, Adenylosuccinate)IBA
01/2022
1IMP cyclohydrolaseIBA
01/2022
1phosphoribosylaminoimidazole- succinocarboxamide synthetaseIBA
01/2022
1AcidsIBA
01/2022
1Adenylosuccinate LyaseIBA
01/2022
1KynurenineIBA
01/2022
1Ligases (Synthetase)IBA
01/2022
1Proline (L-Proline)FDA Link
01/2022
1RibonucleotidesIBA
01/2022
1Tryptophan (L-Tryptophan)FDA Link
01/2022
1Biomarkers (Surrogate Marker)IBA
01/2022
1Hydroxymethyl and Formyl TransferasesIBA
01/2022
1Neutral Amino AcidsIBA
01/2022
1Low Density Lipoprotein Receptor-Related Protein-2IBA
11/2019
1Blood Proteins (Serum Proteins)IBA
11/2019
1DisulfidesIBA
11/2019
1Riboflavin (Vitamin B2)FDA LinkGeneric
01/2016
1Carrier Proteins (Binding Protein)IBA
01/2014
1Tyrosine (L-Tyrosine)FDA Link
11/2012
14-Hydroxyphenylpyruvate DioxygenaseIBA
11/2012
1EnzymesIBA
11/2012
1SAICARIBA
01/2009
1AICA ribonucleotide (ZMP)IBA
06/2004
1acadesineIBA
06/2004

Therapy/Procedure

2Therapeutics
11/2023 - 10/2021