Roberto Giugliani Selected Research

Glycosphingolipids

1/2023	Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
1/2023	Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results.
12/2015	Identification of mutations in Colombian patients affected with Fabry disease.
2/2012	Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy.
12/2005	Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers.
5/2004	Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.

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Roberto Giugliani Research Topics

Disease

52	Mucopolysaccharidoses 09/2023 - 01/2004
40	Mucopolysaccharidosis I (Hurler Syndrome) 01/2024 - 01/2002
35	Mucopolysaccharidosis II (Hunter Syndrome) 09/2023 - 08/2006
31	Fabry Disease (Fabry's Disease) 01/2023 - 09/2006
26	Lysosomal Storage Diseases (Lysosomal Storage Disease) 05/2024 - 04/2004
22	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 06/2023 - 01/2003
21	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2023 - 01/2004
18	Inborn Genetic Diseases (Disease, Hereditary) 09/2022 - 03/2010
15	Niemann-Pick Diseases (Niemann Pick Disease) 12/2023 - 08/2004
12	Gaucher Disease (Gaucher's Disease) 03/2024 - 05/2004
8	Rare Diseases (Rare Disease) 03/2024 - 09/2011
7	Mucopolysaccharidosis VII (Sly Syndrome) 05/2024 - 09/2012
7	GM1 Gangliosidosis (Gangliosidosis GM1) 09/2023 - 01/2011
6	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 10/2023 - 12/2008
6	Mucolipidoses (Sialidosis) 01/2020 - 08/2004
6	Disease Progression 11/2018 - 04/2005
5	Inflammation (Inflammations) 01/2023 - 02/2012
5	Splenomegaly 12/2022 - 08/2008
5	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 01/2006
5	Cognitive Dysfunction 01/2021 - 01/2012
5	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 09/2006
5	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 12/2016 - 09/2006
4	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2024 - 05/2010
4	Heart Diseases (Heart Disease) 01/2021 - 09/2014
3	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 06/2022 - 01/2016
3	Diarrhea 01/2019 - 09/2014
3	Neoplasms (Cancer) 01/2019 - 02/2008
3	Congenital Abnormalities (Deformity) 02/2015 - 05/2010
3	Phenylketonurias (Phenylketonuria) 05/2011 - 05/2003
3	Demyelinating Diseases (Demyelinating Disease) 03/2008 - 11/2007
2	Neurologic Manifestations (Neurological Manifestations) 03/2024 - 01/2018
2	Body Weight (Weight, Body) 09/2023 - 04/2005
2	Aromatic amino acid decarboxylase deficiency 12/2022 - 06/2021
2	Sphingolipidoses (Sphingolipidosis) 03/2022 - 07/2005
2	GM2 Gangliosidoses (GM2 Gangliosidosis) 03/2022 - 11/2006
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 06/2015
2	Brain Diseases (Brain Disorder) 08/2021 - 12/2017
2	Maple Syrup Urine Disease 01/2019 - 04/2009
2	Sleep Wake Disorders 01/2019 - 01/2019
2	Proteinuria 03/2018 - 01/2009

Drug/Important Bio-Agent (IBA)

92	EnzymesIBA 05/2024 - 01/2002
70	GlycosaminoglycansIBA 01/2024 - 04/2005
29	Iduronidase (alpha-L-Iduronidase)IBA 01/2024 - 01/2002
19	Biomarkers (Surrogate Marker)IBA 03/2024 - 08/2012
17	GalactosidasesIBA 01/2023 - 07/2011
14	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2022 - 01/2003
11	AcidsIBA 03/2024 - 03/2008
11	Proteins (Proteins, Gene)FDA Link 01/2023 - 02/2006
10	SulfatasesIBA 01/2023 - 01/2003
10	idursulfase FDA Link 10/2021 - 08/2006
9	Lysergic Acid Diethylamide (LSD)IBA 10/2023 - 08/2004
9	migalastatIBA 01/2023 - 08/2016
8	GlucuronidaseIBA 05/2024 - 09/2012
8	Dermatan SulfateIBA 06/2023 - 01/2003
7	Keratan SulfateIBA 05/2015 - 01/2004
6	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 12/2023 - 01/2016
6	olipudase alfaIBA 12/2023 - 01/2021
6	GlycosphingolipidsIBA 01/2023 - 05/2004
6	Heparitin Sulfate (Heparan Sulfate)IBA 01/2022 - 06/2011
6	globotriaosylceramide (globotriosylceramide)IBA 01/2019 - 02/2012
6	Fatty Acids (Saturated Fatty Acids)IBA 03/2010 - 09/2006
5	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 03/2012
5	LipidsIBA 01/2021 - 08/2008
4	SphingomyelinsIBA 12/2023 - 01/2016
4	chitotriosidaseIBA 10/2023 - 05/2004
4	AntioxidantsIBA 01/2023 - 09/2006
4	CytokinesIBA 01/2023 - 12/2010
4	CholesterolIBA 01/2023 - 01/2016
4	Cerebroside-Sulfatase (Arylsulfatase A)IBA 03/2022 - 12/2008
4	CreatinineIBA 03/2018 - 04/2004
4	human GALNS proteinIBA 01/2018 - 11/2014
3	Glucosylceramidase (Glucocerebrosidase)IBA 03/2024 - 07/2005
3	Free RadicalsIBA 01/2023 - 09/2006
3	agalsidase alfaIBA 01/2022 - 01/2009
3	Bile Acids and Salts (Bile Acids)IBA 12/2020 - 06/2014
3	HydrolasesIBA 12/2019 - 01/2017
3	Chondroitin Sulfates (Chondroitin Sulfate)IBA 05/2015 - 01/2003
3	beta-GlucosidaseIBA 12/2005 - 05/2004
2	Indicators and Reagents (Reagents)IBA 03/2024 - 01/2020
2	Immunoglobulin G (IgG)IBA 03/2024 - 06/2004
2	Transferrin Receptors (Transferrin Receptor)IBA 01/2024 - 10/2021
2	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/2024 - 01/2022
2	Hexosaminidases (Hexosaminidase)IBA 10/2023 - 01/2022
2	DisaccharidesIBA 09/2023 - 09/2014
2	Tyrosine (L-Tyrosine)FDA Link 01/2023 - 05/2015
2	3-methoxytyrosineIBA 12/2022 - 06/2021
2	sphingosine phosphorylcholineIBA 11/2022 - 06/2022
2	SphingolipidsIBA 03/2022 - 12/2020
2	Sulfoglycosphingolipids (Sulfatides)IBA 03/2022 - 01/2020
2	Therapeutic UsesIBA 01/2022 - 01/2009
2	Carbon MonoxideIBA 01/2022 - 09/2020
2	Losartan (Cozaar)FDA LinkGeneric 01/2021 - 01/2017
2	Insulin ReceptorIBA 04/2018 - 01/2018
2	valanafusp alphaIBA 04/2018 - 01/2018
2	alpha-Galactosidase (Beano)IBA 03/2018 - 01/2008
2	Cathepsin BIBA 03/2018 - 03/2017

Therapy/Procedure

67	Enzyme Replacement Therapy 01/2024 - 06/2005
24	Therapeutics 01/2023 - 09/2006
9	Hematopoietic Stem Cell Transplantation 01/2019 - 12/2011
2	Transplantation 10/2017 - 12/2010