R Giugliani Selected Research

Creatine Kinase (Creatine Phosphokinase)

1/2005

3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.

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R Giugliani Research Topics

Disease

7	Fabry Disease (Fabry's Disease) 05/2013 - 01/2004
6	Mucopolysaccharidosis I (Hurler Syndrome) 01/2018 - 09/2001
6	Mucopolysaccharidoses 01/2017 - 11/2000
5	Mucopolysaccharidosis II (Hunter Syndrome) 10/2020 - 12/2009
4	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 03/2013 - 01/2005
3	Lysosomal Storage Diseases (Lysosomal Storage Disease) 06/2015 - 05/2012
3	GM1 Gangliosidosis (Gangliosidosis GM1) 04/2008 - 03/2000
2	Gaucher Disease (Gaucher's Disease) 06/2015 - 02/2006
2	Stroke (Strokes) 01/2010 - 02/2006
2	Phenylketonurias (Phenylketonuria) 12/2006 - 04/2005
2	Mucolipidoses (Sialidosis) 01/2005 - 01/2005
1	Mucopolysaccharidosis IV (Morquio Syndrome) 06/2015
1	Glycogen Storage Disease Type II (Pompe's Disease) 06/2015
1	Globoid Cell Leukodystrophy (Krabbe Disease) 01/2015
1	Wolman Disease (Wolman's Disease) 04/2014
1	Cholesterol Ester Storage Disease 04/2014
1	Inborn Genetic Diseases (Disease, Hereditary) 05/2013
1	Breast Neoplasms (Breast Cancer) 10/2012
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 05/2012
1	Hyperhomocysteinemia 01/2010
1	Neuraminidase deficiency with beta-galactosidase deficiency 12/2008
1	Renal Insufficiency (Renal Failure) 12/2008
1	Tay-Sachs Disease 06/2006
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2006
1	Disease Progression 06/2006
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 06/2006
1	Neuralgia (Stump Neuralgia) 10/2005
1	Glutaric Acidemia I 01/2005
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 03/2004
1	Demyelinating Diseases (Demyelinating Disease) 01/2004
1	Parkinson Disease (Parkinson's Disease) 01/2004
1	Multiple Sclerosis 01/2004
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2004
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2004
1	Alzheimer Disease (Alzheimer's Disease) 01/2004
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2004
1	Cryptogenic Cirrhosis 12/2001
1	Hepatorenal form of glycogen storage disease 01/2001

Drug/Important Bio-Agent (IBA)

16	EnzymesIBA 06/2015 - 07/2000
9	GlycosaminoglycansIBA 09/2017 - 11/2000
5	Iduronidase (alpha-L-Iduronidase)IBA 01/2018 - 09/2001
3	AcidsIBA 04/2008 - 09/2000
2	Lysergic Acid Diethylamide (LSD)IBA 06/2015 - 01/2015
2	globotriaosylceramide (globotriosylceramide)IBA 05/2013 - 12/2007
2	GalactosidasesIBA 05/2013 - 12/2007
2	Proteins (Proteins, Gene)FDA Link 12/2008 - 11/2000
2	beta-Galactosidase (Lactaid)IBA 04/2008 - 03/2000
2	DNA (Deoxyribonucleic Acid)IBA 04/2008 - 03/2004
2	HydrolasesIBA 04/2008 - 02/2006
2	alpha-Galactosidase (Beano)IBA 12/2007 - 10/2005
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 12/2006 - 07/2000
1	Iduronic Acid (Iduronate)IBA 10/2020
1	Dermatan SulfateIBA 10/2020
1	InflammasomesIBA 10/2020
1	idursulfase FDA Link 09/2017
1	AntibodiesIBA 09/2017
1	human GALNS proteinIBA 01/2017
1	GlucosidasesIBA 06/2015
1	GalactosylceramidaseIBA 01/2015
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 04/2014
1	Lipase (Acid Lipase)FDA Link 04/2014
1	GenisteinIBA 02/2014
1	migalastatIBA 05/2013
1	galsulfase FDA Link 03/2013
1	Hormones (Hormone)IBA 10/2012
1	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 05/2012
1	SulfatasesIBA 05/2012
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2010
1	agalsidase alfaIBA 12/2009
1	Cathepsin AIBA 12/2008
1	5'-deoxy-5'-phosphonomethyladenosine phosphateIBA 12/2008
1	Liposomes (Liposome)IBA 04/2008
1	Amino Acids FDA Link 12/2006
1	Hexosaminidase A (Hex A)IBA 06/2006
1	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 02/2006
1	Tyrosine (L-Tyrosine)FDA Link 04/2005
1	Phenylalanine (L-Phenylalanine)FDA Link 04/2005
1	Adenosine Triphosphatases (ATPase)IBA 01/2005
1	Heparitin Sulfate (Heparan Sulfate)IBA 01/2005
1	SphingolipidsIBA 01/2005
1	Protein Isoforms (Isoforms)IBA 01/2005
1	ArylsulfatasesIBA 01/2005
1	3-hydroxyglutaric acidIBA 01/2005
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2005
1	Biomarkers (Surrogate Marker)IBA 01/2005
1	BiotinidaseIBA 03/2004
1	CatalaseIBA 01/2004
1	lignoceric acid (tetracosanoic acid)IBA 01/2004
1	Superoxide DismutaseIBA 01/2004
1	Glutathione PeroxidaseIBA 01/2004
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2004
1	hexacosanoic acidIBA 01/2004
1	Free RadicalsIBA 01/2004
1	thiobarbituric acidIBA 01/2004
1	AntioxidantsIBA 01/2004
1	Biological ProductsIBA 01/2004
1	Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA 01/2001

Therapy/Procedure

10	Enzyme Replacement Therapy 09/2017 - 01/2004
2	Therapeutics 03/2013 - 05/2012
1	Kidney Transplantation 12/2008