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R Giugliani Selected Research
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
Enzymes
IBA
06/2015 - 07/2000
9
Glycosaminoglycans
IBA
09/2017 - 11/2000
5
Iduronidase (alpha-L-Iduronidase)
IBA
01/2018 - 09/2001
3
Acids
IBA
04/2008 - 09/2000
2
Lysergic Acid Diethylamide (LSD)
IBA
06/2015 - 01/2015
2
globotriaosylceramide (globotriosylceramide)
IBA
05/2013 - 12/2007
2
Galactosidases
IBA
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
Hydrolases
IBA
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 Sulfate
IBA
10/2020
1
Inflammasomes
IBA
10/2020
1
idursulfase
FDA Link
09/2017
1
Antibodies
IBA
09/2017
1
human GALNS protein
IBA
01/2017
1
Glucosidases
IBA
06/2015
1
Galactosylceramidase
IBA
01/2015
1
Sterol Esterase (Hormone-Sensitive Lipase)
IBA
04/2014
1
Lipase (Acid Lipase)
FDA Link
04/2014
1
Genistein
IBA
02/2014
1
migalastat
IBA
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
Sulfatases
IBA
05/2012
1
Folic Acid (Vitamin M)
FDA Link
Generic
01/2010
1
agalsidase alfa
IBA
12/2009
1
Cathepsin A
IBA
12/2008
1
5'-deoxy-5'-phosphonomethyladenosine phosphate
IBA
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 deficiency
IBA
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
Sphingolipids
IBA
01/2005
1
Protein Isoforms (Isoforms)
IBA
01/2005
1
Arylsulfatases
IBA
01/2005
1
3-hydroxyglutaric acid
IBA
01/2005
1
Creatine Kinase (Creatine Phosphokinase)
IBA
01/2005
1
Biomarkers (Surrogate Marker)
IBA
01/2005
1
Biotinidase
IBA
03/2004
1
Catalase
IBA
01/2004
1
lignoceric acid (tetracosanoic acid)
IBA
01/2004
1
Superoxide Dismutase
IBA
01/2004
1
Glutathione Peroxidase
IBA
01/2004
1
Fatty Acids (Saturated Fatty Acids)
IBA
01/2004
1
hexacosanoic acid
IBA
01/2004
1
Free Radicals
IBA
01/2004
1
thiobarbituric acid
IBA
01/2004
1
Antioxidants
IBA
01/2004
1
Biological Products
IBA
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