Christiane Auray-Blais Selected Research

Galactosidases

2/2023	Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
1/2023	Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
11/2020	Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.
8/2020	Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
1/2020	The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease.
1/2019	Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.
1/2019	Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy.
1/2018	Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
12/2017	Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients.
12/2016	Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion.

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Christiane Auray-Blais Research Topics

Disease

40	Fabry Disease (Fabry's Disease) 12/2023 - 03/2008
6	Gaucher Disease (Gaucher's Disease) 02/2023 - 01/2020
5	Mucopolysaccharidoses 11/2019 - 01/2011
3	Disease Progression 01/2020 - 02/2010
2	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 05/2022 - 05/2020
2	Sphingolipidoses (Sphingolipidosis) 03/2022 - 01/2018
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 03/2021 - 09/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 01/2019
2	Albuminuria 01/2019 - 02/2010
2	Parkinson Disease (Parkinson's Disease) 01/2018 - 02/2016
1	Hyperlysinemias (Hyperlysinemia) 11/2023
1	Cystinuria 11/2023
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2023
1	3-Hydroxyacyl-CoA Dehydrogenase Deficiency 11/2022
1	Inborn Urea Cycle Disorders 03/2021
1	Neoplasms (Cancer) 01/2021
1	Pain (Aches) 01/2021
1	Hypertrophy 11/2020
1	Pre-Eclampsia (Preeclampsia) 08/2019
1	Mucopolysaccharidosis II (Hunter Syndrome) 04/2019
1	Heart Failure 11/2018
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 11/2018
1	Inflammation (Inflammations) 11/2018
1	Infarction (Infarctions) 01/2018
1	Mucopolysaccharidosis IV (Morquio Syndrome) 02/2016
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2016
1	Muscle Weakness 01/2016
1	Asthma (Bronchial Asthma) 01/2016
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 01/2016
1	Cardiomyopathies (Cardiomyopathy) 07/2015
1	Heart Diseases (Heart Disease) 07/2015
1	Hyperglycemia 10/2014
1	Ornithine Carbamoyltransferase Deficiency Disease 09/2014
1	Sarcosinemia 11/2012
1	Intellectual Disability (Idiocy) 01/2011

Drug/Important Bio-Agent (IBA)

30	Biomarkers (Surrogate Marker)IBA 12/2023 - 07/2009
27	EnzymesIBA 02/2023 - 03/2008
19	GalactosidasesIBA 02/2023 - 12/2010
15	globotriaosylceramide (globotriosylceramide)IBA 10/2021 - 03/2008
11	globotriaosyl lysosphingolipidIBA 10/2021 - 12/2010
10	GlycosphingolipidsIBA 02/2023 - 12/2010
5	Glucosylceramidase (Glucocerebrosidase)IBA 02/2023 - 02/2016
5	CreatinineIBA 11/2022 - 03/2008
5	SphingolipidsIBA 03/2022 - 01/2016
5	alpha-Galactosidase (Beano)IBA 01/2021 - 03/2008
5	Protein Isoforms (Isoforms)IBA 11/2020 - 10/2013
5	GlycosaminoglycansIBA 11/2019 - 01/2011
4	migalastatIBA 12/2023 - 01/2019
3	galabiosylceramideIBA 11/2020 - 01/2016
3	Proteins (Proteins, Gene)FDA Link 08/2019 - 10/2008
2	AcidsIBA 06/2022 - 02/2022
2	Methylmalonic AcidIBA 05/2022 - 05/2020
2	GlycolipidsIBA 03/2022 - 11/2020
2	Amino Acids FDA Link 03/2021 - 10/2008
2	Sulfoglycosphingolipids (Sulfatides)IBA 01/2018 - 01/2016
2	DisaccharidesIBA 09/2016 - 02/2016
1	Lysine (L-Lysine)FDA Link 11/2023
1	allysineIBA 11/2023
1	VitaminsIBA 11/2022
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2021
1	Adenosine Triphosphate (ATP)IBA 01/2021
1	Carrier Proteins (Binding Protein)IBA 01/2021
1	Glycoproteins (Glycoprotein)IBA 11/2020
1	SphingosineIBA 11/2020
1	Fatty Acids (Saturated Fatty Acids)IBA 11/2020
1	podocalyxinIBA 08/2019
1	NPHS2 proteinIBA 08/2019
1	Heparitin Sulfate (Heparan Sulfate)IBA 04/2019
1	Dermatan SulfateIBA 04/2019
1	agalsidase alfaIBA 01/2019
1	agalsidase beta FDA Link 01/2019
1	Atrial Natriuretic Factor (ANF)IBA 11/2018
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 11/2018
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 11/2018
1	Brain Natriuretic Peptide (Natrecor)FDA Link 11/2018
1	Matrix Metalloproteinases (MMPs)IBA 11/2018
1	Galectin 1 (LGALS1)IBA 11/2018
1	Galectin 3 (LGALS3)IBA 11/2018
1	Interleukin-6 (Interleukin 6)IBA 11/2018
1	OxysterolsIBA 01/2018
1	Bile Acids and Salts (Bile Acids)IBA 01/2018
1	alpha-SynucleinIBA 01/2018
1	CDw17 antigen (lactosylceramide)IBA 12/2017
1	Lysergic Acid Diethylamide (LSD)IBA 06/2017
1	Glucosylceramides (Glucocerebrosides)IBA 02/2016
1	Galactosylceramides (Galactocerebrosides)IBA 02/2016
1	Keratan SulfateIBA 02/2016
1	GlycogenIBA 01/2016
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 01/2016
1	Fluticasone (Cutivate)FDA LinkGeneric 01/2016
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2016
1	Fetal Hemoglobin (Hemoglobin F)IBA 10/2014
1	CreatineIBA 09/2014
1	HHH syndromeIBA 09/2014
1	Sarcosine DehydrogenaseIBA 11/2012
1	Sarcosine (Methylglycine)IBA 11/2012
1	IsotopesIBA 07/2011
1	Amino Acid Transport System X-AG (Glutamate Transporter)IBA 01/2011

Therapy/Procedure

5	Enzyme Replacement Therapy 12/2023 - 04/2019
4	Therapeutics 12/2023 - 07/2011