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Catherine Caillaud Selected Research

alpha-Galactosidase (Beano)

1/2020Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
1/2020First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
5/2008The pulvinar sign: frequency and clinical correlations in Fabry disease.

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Catherine Caillaud Research Topics

Disease

14Glycogen Storage Disease Type II (Pompe's Disease)
08/2023 - 09/2003
11Gaucher Disease (Gaucher's Disease)
01/2019 - 01/2002
7Sandhoff Disease (Sandhoff's Disease)
01/2020 - 11/2005
5Fabry Disease (Fabry's Disease)
01/2020 - 05/2008
5Neurodegenerative Diseases (Neurodegenerative Disease)
01/2018 - 11/2005
4Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
02/2010 - 11/2008
4Respiratory Insufficiency (Respiratory Failure)
02/2010 - 11/2008
3Mucopolysaccharidosis I (Hurler Syndrome)
01/2023 - 07/2004
3GM2 Gangliosidoses (GM2 Gangliosidosis)
01/2023 - 08/2014
3Mucopolysaccharidosis IV (Morquio Syndrome)
01/2022 - 08/2009
3Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
01/2020 - 04/2009
2GM1 Gangliosidosis (Gangliosidosis GM1)
01/2023 - 08/2009
2Inborn Genetic Diseases (Disease, Hereditary)
01/2023 - 08/2014
2Mucopolysaccharidoses
01/2022 - 03/2012
2Seizures (Absence Seizure)
11/2021 - 01/2020
2Tay-Sachs Disease
01/2020 - 02/2010
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2020 - 01/2013
2Obstructive Sleep Apnea
01/2019 - 12/2015
2Apnea
01/2019 - 12/2015
2Muscular Diseases (Myopathy)
11/2016 - 11/2011
1Microcephaly
11/2021
1Fatigue
07/2020
1Cognitive Dysfunction
01/2020
1Frontotemporal Dementia (Semantic Dementia)
01/2020
1Cerebellar Ataxia (Dysmetria)
01/2020
1Proteinuria
01/2020
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2020
1Hereditary Spastic Paraplegia
01/2018
1Ciliopathies
10/2015
1Sphingolipidoses (Sphingolipidosis)
08/2014
1Vacuolar myopathy
06/2013
1Infarction (Infarctions)
10/2012
1Osteonecrosis (Kienbock's Disease)
10/2012
1Spontaneous Fractures (Pathological Fracture)
10/2012
1Parkinson Disease (Parkinson's Disease)
10/2012
1Cardiomegaly (Heart Hypertrophy)
02/2010
1Protein Deficiency
01/2010
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
01/2010
1Dysostoses
08/2009
1Bone Resorption
01/2002

Drug/Important Bio-Agent (IBA)

13EnzymesIBA
01/2023 - 01/2002
11AcidsIBA
11/2018 - 11/2008
9GlycogenIBA
06/2013 - 09/2003
7Hexosaminidases (Hexosaminidase)IBA
01/2020 - 11/2005
7Glucosylceramidase (Glucocerebrosidase)IBA
01/2019 - 01/2002
6alpha-Glucosidases (Acid Maltase)IBA
11/2011 - 11/2008
5Proteins (Proteins, Gene)FDA Link
01/2018 - 08/2010
5G(M2) Ganglioside (Ganglioside GM2)IBA
08/2014 - 11/2005
4GlucosidasesIBA
11/2018 - 11/2011
3GalactosidasesIBA
01/2023 - 03/2012
3alpha-Galactosidase (Beano)IBA
01/2020 - 05/2008
3Mannose (D-Mannose)IBA
01/2019 - 11/2016
2GangliosidesIBA
01/2023 - 01/2018
2Iduronidase (alpha-L-Iduronidase)IBA
01/2023 - 07/2004
2imigluceraseFDA Link
01/2019 - 05/2009
2AntibodiesIBA
01/2018 - 11/2016
2SphingolipidsIBA
08/2014 - 01/2010
2Biomarkers (Surrogate Marker)IBA
06/2014 - 01/2002
2SulfatasesIBA
03/2012 - 08/2010
2beta-N-AcetylhexosaminidasesIBA
03/2010 - 02/2010
2Hexosaminidase A (Hex A)IBA
02/2010 - 03/2006
1Retinaldehyde (Retinal)IBA
11/2021
1Hemoglobins (Hemoglobin)IBA
07/2020
1chitotriosidaseIBA
07/2020
1ProgranulinsIBA
01/2020
1GlycosphingolipidsIBA
01/2020
1Immunoglobulin A (IgA)IBA
01/2020
1Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA
01/2020
1human GAA protein (Myozyme)FDA Link
11/2016
1Oxygen (Dioxygen)IBA
12/2015
1Pyrimethamine (Daraprim)FDA Link
08/2014
1Creatine Kinase (Creatine Phosphokinase)IBA
06/2013
1Protein Isoforms (Isoforms)IBA
01/2011
1Glycogen Synthase (Synthase I)IBA
01/2011
1ArylsulfatasesIBA
08/2010
1beta-Hexosaminidase beta ChainIBA
03/2010
1hydroxide ionIBA
03/2010
1Cerebroside-Sulfatase (Arylsulfatase A)IBA
01/2010
1Sulfoglycosphingolipids (Sulfatides)IBA
01/2010
1beta-Galactosidase (Lactaid)IBA
08/2009
1acid beta-galactosidaseIBA
08/2009
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
04/2009
1LigandsIBA
04/2009
1Fas Ligand Protein (Fas Ligand)IBA
04/2009
1globotriaosylceramide (globotriosylceramide)IBA
05/2008
1Adenosine Triphosphatases (ATPase)IBA
03/2006
1Dermatan SulfateIBA
07/2004
1GlycolipidsIBA
09/2002
1Glucosylceramides (Glucocerebrosides)IBA
01/2002
1OsteocalcinIBA
01/2002
1Collagen Type I (Type I Collagen)IBA
01/2002

Therapy/Procedure

9Enzyme Replacement Therapy
08/2023 - 06/2008
7Therapeutics
01/2023 - 05/2009
1Stem Cell Transplantation
01/2023
1Enzyme Therapy
01/2019
1Continuous Positive Airway Pressure
01/2019
1Intravenous Administration
01/2018
1Hematopoietic Stem Cell Transplantation
12/2015
1Splenectomy
10/2012