Bruno Bembi Selected Research

beta-Glucosidase

8/2009

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

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Bruno Bembi Research Topics

Disease

24	Gaucher Disease (Gaucher's Disease) 12/2020 - 01/2005
18	Glycogen Storage Disease Type II (Pompe's Disease) 04/2023 - 09/2003
8	Disease Progression 06/2021 - 04/2010
6	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 06/2021 - 11/2002
4	Splenomegaly 12/2021 - 08/2008
4	Muscular Diseases (Myopathy) 08/2014 - 03/2007
3	Neurologic Manifestations (Neurological Manifestations) 12/2020 - 02/2015
3	Parkinson Disease (Parkinson's Disease) 10/2017 - 07/2014
3	Pain (Aches) 01/2017 - 01/2013
3	Niemann-Pick Diseases (Niemann Pick Disease) 04/2016 - 08/2005
3	Mucopolysaccharidosis II (Hunter Syndrome) 04/2010 - 04/2006
2	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2020 - 09/2009
2	Tangier Disease 01/2020 - 09/2014
2	Metabolic Diseases (Metabolic Disease) 12/2014 - 01/2014
2	Fabry Disease (Fabry's Disease) 07/2014 - 01/2004
1	Lung Diseases (Lung Disease) 12/2021
1	Epilepsy (Aura) 12/2020
1	Rare Diseases (Rare Disease) 01/2019
1	Muscular Atrophy (Muscle Atrophy) 01/2019
1	Cognitive Dysfunction 10/2017
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2017
1	Muscle Weakness 12/2015
1	Body Weight (Weight, Body) 03/2015
1	Ataxia (Dyssynergia) 09/2014
1	Lymphedema (Milroy Disease) 09/2014
1	Prurigo 09/2014
1	Dysarthria (Spastic Dysarthria) 09/2014
1	Deglutition Disorders (Dysphagia) 09/2014
1	Pancytopenia 09/2014
1	Late Onset Disorders 06/2014
1	Tay-Sachs Disease 05/2012
1	Globoid Cell Leukodystrophy (Krabbe Disease) 12/2010
1	Myalgia 04/2010
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2009
1	Neuroblastoma 09/2009
1	Nephrotic Syndrome (Syndrome, Nephrotic) 08/2009
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 08/2009
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 08/2009
1	Mucolipidoses (Sialidosis) 06/2009
1	Type B Niemann-Pick Disease 08/2008
1	Hepatomegaly 08/2008
1	Spontaneous Remission 04/2006
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2006

Drug/Important Bio-Agent (IBA)

22	EnzymesIBA 12/2018 - 09/2003
15	AcidsIBA 12/2020 - 09/2003
11	Glucosylceramidase (Glucocerebrosidase)IBA 12/2018 - 01/2005
10	miglustat (Zavesca)FDA Link 01/2020 - 03/2007
8	alpha-Glucosidases (Acid Maltase)IBA 04/2023 - 09/2003
8	GlucosidasesIBA 12/2020 - 03/2007
6	GlycogenIBA 04/2023 - 03/2007
6	Biomarkers (Surrogate Marker)IBA 06/2021 - 07/2014
5	Glucosylceramides (Glucocerebrosides)IBA 01/2016 - 01/2005
4	LipidsIBA 11/2020 - 08/2008
4	imiglucerase FDA Link 03/2015 - 01/2010
3	GlycosphingolipidsIBA 01/2020 - 09/2009
3	DNA (Deoxyribonucleic Acid)IBA 08/2014 - 11/2002
3	Proteins (Proteins, Gene)FDA Link 07/2014 - 01/2004
3	CholesterolIBA 01/2014 - 09/2009
3	HydrolasesIBA 06/2009 - 03/2007
2	SphingomyelinsIBA 12/2021 - 01/2016
2	neodymium pyrocatechin disulfonate (NPD)IBA 01/2016 - 08/2005
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2016 - 08/2005
2	Creatine Kinase (Creatine Phosphokinase)IBA 08/2014 - 04/2010
2	Complementary DNA (cDNA)IBA 04/2010 - 11/2002
2	Messenger RNA (mRNA)IBA 09/2009 - 04/2006
2	Imino SugarsIBA 03/2007 - 03/2007
2	SphingolipidsIBA 10/2005 - 01/2004
1	Ambroxol (Mucosolvan)IBA 12/2020
1	MicroRNAs (MicroRNA)IBA 01/2019
1	arimoclomolIBA 12/2018
1	7-ketocholesterolIBA 04/2016
1	eliglustatIBA 01/2016
1	Lysosomal Membrane ProteinsIBA 09/2015
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 09/2014
1	GadoliniumIBA 07/2014
1	alpha-SynucleinIBA 07/2014
1	chitotriosidaseIBA 01/2013
1	Hexosaminidase A (Hex A)IBA 05/2012
1	GalactosylceramidaseIBA 12/2010
1	Peptidyl-Dipeptidase A (Angiotensin Converting Enzyme)IBA 04/2010
1	Mannose (D-Mannose)IBA 08/2009
1	beta-GlucosidaseIBA 08/2009
1	SandIBA 11/2007
1	Antihypertensive Agents (Antihypertensives)IBA 04/2006
1	RNA (Ribonucleic Acid)IBA 01/2006
1	NucleotidesIBA 01/2006
1	GlycolipidsIBA 01/2005
1	alpha-Galactosidase (Beano)IBA 01/2004
1	Glutamine (L-Glutamine)FDA Link 01/2004

Therapy/Procedure

14	Enzyme Replacement Therapy 01/2020 - 01/2005
12	Therapeutics 12/2020 - 03/2007
1	Splenectomy 10/2021
1	High-Protein Diet 01/2020
1	Ambulatory Care (Outpatient Care) 01/2019
1	Drug Prescriptions 01/2019
1	Denervation 01/2017
1	Enzyme Therapy 01/2017
1	Breathing Exercises 12/2015