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Andrea Dardis Selected Research

beta-Glucosidase

5/2021Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
8/2009Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

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Andrea Dardis Research Topics

Disease

14Glycogen Storage Disease Type II (Pompe's Disease)
03/2021 - 04/2010
12Gaucher Disease (Gaucher's Disease)
05/2021 - 02/2011
7Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
07/2020 - 07/2012
6Disease Progression
01/2020 - 04/2010
5Neurologic Manifestations (Neurological Manifestations)
12/2020 - 07/2012
3Niemann-Pick Diseases (Niemann Pick Disease)
11/2021 - 08/2005
3Parkinson Disease (Parkinson's Disease)
10/2017 - 07/2014
3Pain (Aches)
01/2017 - 01/2013
2Lung Diseases (Lung Disease)
12/2021 - 11/2021
2Splenomegaly
12/2021 - 09/2014
2Neurodegenerative Diseases (Neurodegenerative Disease)
07/2020 - 09/2009
2Tangier Disease
01/2020 - 09/2014
2Metabolic Diseases (Metabolic Disease)
02/2018 - 01/2014
2Cognitive Dysfunction
10/2017 - 04/2014
2Mucopolysaccharidosis II (Hunter Syndrome)
01/2017 - 04/2010
2Mucolipidoses (Sialidosis)
11/2009 - 06/2009
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
11/2021
1Neoplasms (Cancer)
01/2021
1Epilepsy (Aura)
12/2020
1alpha-Mannosidosis
09/2020
1Inflammation (Inflammations)
01/2020
1COVID-19
01/2020
1Nervous System Diseases (Neurological Disorders)
09/2019
1Muscular Atrophy (Muscle Atrophy)
01/2019
1Neonatal Hyperbilirubinemia
12/2018
1Kernicterus
12/2018
1Brain Diseases (Brain Disorder)
12/2018
1Peripheral Nervous System Diseases (PNS Diseases)
01/2017
1Dysarthria (Spastic Dysarthria)
09/2014
1Ataxia (Dyssynergia)
09/2014
1Deglutition Disorders (Dysphagia)
09/2014
1Lymphedema (Milroy Disease)
09/2014
1Pancytopenia
09/2014
1Prurigo
09/2014
1Muscular Diseases (Myopathy)
08/2014
1Fabry Disease (Fabry's Disease)
07/2014
1Late Onset Disorders
06/2014
1Alzheimer Disease (Alzheimer's Disease)
04/2014
1Tay-Sachs Disease
05/2012
1Myalgia
04/2010
1Neuroblastoma
09/2009
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
08/2009
1Nephrotic Syndrome (Syndrome, Nephrotic)
08/2009
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
08/2009

Drug/Important Bio-Agent (IBA)

15EnzymesIBA
11/2021 - 08/2009
15AcidsIBA
11/2021 - 08/2005
7GlucosidasesIBA
12/2020 - 02/2011
6alpha-Glucosidases (Acid Maltase)IBA
03/2021 - 12/2010
6miglustat (Zavesca)FDA Link
01/2020 - 07/2012
4Glucosylceramidase (Glucocerebrosidase)IBA
12/2018 - 12/2012
3Proteins (Proteins, Gene)FDA Link
01/2021 - 09/2009
3Biomarkers (Surrogate Marker)IBA
12/2020 - 07/2014
3GlycosphingolipidsIBA
01/2020 - 09/2009
3Cholinergic Agents (Cholinergics)IBA
09/2019 - 04/2014
3CholesterolIBA
01/2014 - 09/2009
2SphingomyelinsIBA
12/2021 - 11/2021
2Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
11/2021 - 08/2005
2beta-GlucosidaseIBA
05/2021 - 08/2009
2RNA Precursors (Precursor, mRNA)IBA
07/2020 - 11/2019
2GlycogenIBA
11/2019 - 01/2017
2Lysosomal Membrane ProteinsIBA
02/2018 - 09/2015
2HydrolasesIBA
02/2018 - 06/2009
2Messenger RNA (mRNA)IBA
01/2017 - 09/2009
2Creatine Kinase (Creatine Phosphokinase)IBA
08/2014 - 04/2010
2DNA (Deoxyribonucleic Acid)IBA
08/2014 - 04/2010
2LipidsIBA
07/2014 - 07/2012
1Ambroxol (Mucosolvan)IBA
12/2020
1alpha-Mannosidase (LAMAN)IBA
09/2020
1OligosaccharidesIBA
09/2020
1RNA-Binding Proteins (RNA-Binding Protein)IBA
07/2020
1RNA (Ribonucleic Acid)IBA
07/2020
1CytokinesIBA
01/2020
1NucleotidesIBA
11/2019
1MicroRNAs (MicroRNA)IBA
01/2019
1Histones (Histone)IBA
12/2018
1BilirubinIBA
12/2018
1arimoclomolIBA
12/2018
1Lysine (L-Lysine)FDA Link
12/2018
1Iduronic Acid (Iduronate)IBA
01/2017
17-ketocholesterolIBA
04/2016
1eliglustatIBA
01/2016
1Glucosylceramides (Glucocerebrosides)IBA
01/2016
1OxysterolsIBA
03/2015
1Glucose (Dextrose)FDA LinkGeneric
03/2015
1Filipin (Filipin III)IBA
03/2015
1ATP-Binding Cassette Transporters (ABC Transporters)IBA
09/2014
1GadoliniumIBA
07/2014
1alpha-SynucleinIBA
07/2014
1chitotriosidaseIBA
01/2013
1Hexosaminidase A (Hex A)IBA
05/2012
1Complementary DNA (cDNA)IBA
04/2010
1Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA
04/2010
1TransferasesIBA
11/2009
1Mannose (D-Mannose)IBA
08/2009
1neodymium pyrocatechin disulfonate (NPD)IBA
08/2005

Therapy/Procedure

9Therapeutics
12/2020 - 10/2003
9Enzyme Replacement Therapy
09/2020 - 12/2010
1High-Protein Diet
01/2020
1Denervation
01/2017
1Enzyme Therapy
01/2017