Roberto Giugliani Selected Research

Mucopolysaccharidosis IV (Morquio Syndrome)

2/2019	Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.
1/2019	Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
1/2018	Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.
10/2017	Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.
6/2017	Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels.
1/2017	Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
1/2016	Emerging drugs for the treatment of mucopolysaccharidoses.
5/2015	Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.
1/2015	Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.
1/2015	Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

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Roberto Giugliani Research Topics

Disease

49	Mucopolysaccharidoses 01/2022 - 01/2004
39	Mucopolysaccharidosis I (Hurler Syndrome) 01/2022 - 01/2002
34	Mucopolysaccharidosis II (Hunter Syndrome) 10/2021 - 08/2006
29	Fabry Disease (Fabry's Disease) 12/2021 - 09/2006
23	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2022 - 04/2004
21	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2022 - 01/2003
20	Mucopolysaccharidosis IV (Morquio Syndrome) 02/2019 - 01/2004
18	Inborn Genetic Diseases (Disease, Hereditary) 09/2022 - 03/2010
10	Gaucher Disease (Gaucher's Disease) 01/2021 - 05/2004
9	Niemann-Pick Diseases (Niemann Pick Disease) 01/2022 - 08/2004
7	Disease Progression 03/2022 - 04/2005
6	GM1 Gangliosidosis (Gangliosidosis GM1) 03/2022 - 01/2011
6	Rare Diseases (Rare Disease) 10/2021 - 09/2011
6	Mucolipidoses (Sialidosis) 01/2020 - 08/2004
5	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 03/2022 - 12/2008
5	Cognitive Dysfunction 01/2021 - 01/2012
5	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 01/2006
5	Mucopolysaccharidosis VII (Sly Syndrome) 01/2021 - 09/2012
5	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 09/2006
5	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 12/2016 - 09/2006
4	Inflammation (Inflammations) 01/2022 - 02/2012
4	Splenomegaly 01/2022 - 08/2008
4	Heart Diseases (Heart Disease) 01/2021 - 09/2014
3	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2022 - 05/2010
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	GM2 Gangliosidoses (GM2 Gangliosidosis) 03/2022 - 11/2006
2	Sphingolipidoses (Sphingolipidosis) 03/2022 - 07/2005
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 06/2015
2	Brain Diseases (Brain Disorder) 08/2021 - 12/2017
2	Exanthema (Rash) 01/2021 - 01/2009
2	Urticaria (Hives) 01/2021 - 01/2009
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2020 - 01/2016
2	Sleep Wake Disorders 01/2019 - 01/2019
2	Maple Syrup Urine Disease 01/2019 - 04/2009
2	Proteinuria 03/2018 - 01/2009
2	Melanoma (Melanoma, Malignant) 01/2016 - 02/2008
2	Intellectual Disability (Idiocy) 02/2015 - 04/2007
2	Breast Neoplasms (Breast Cancer) 06/2012 - 01/2011
2	Hypertrophy 12/2011 - 07/2006

Drug/Important Bio-Agent (IBA)

83	EnzymesIBA 09/2022 - 01/2002
65	GlycosaminoglycansIBA 01/2022 - 04/2005
28	Iduronidase (alpha-L-Iduronidase)IBA 01/2022 - 01/2002
16	GalactosidasesIBA 12/2019 - 07/2011
14	Biomarkers (Surrogate Marker)IBA 03/2022 - 08/2012
14	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2022 - 01/2003
10	idursulfase FDA Link 10/2021 - 08/2006
9	SulfatasesIBA 05/2018 - 01/2003
8	Proteins (Proteins, Gene)FDA Link 03/2022 - 02/2006
7	migalastatIBA 12/2021 - 08/2016
7	AcidsIBA 01/2019 - 03/2008
7	Dermatan SulfateIBA 06/2018 - 01/2003
7	Keratan SulfateIBA 05/2015 - 01/2004
6	Heparitin Sulfate (Heparan Sulfate)IBA 01/2022 - 06/2011
6	Lysergic Acid Diethylamide (LSD)IBA 01/2019 - 08/2004
6	globotriaosylceramide (globotriosylceramide)IBA 01/2019 - 02/2012
6	Fatty Acids (Saturated Fatty Acids)IBA 03/2010 - 09/2006
5	Pharmaceutical PreparationsIBA 03/2022 - 01/2009
5	GlucuronidaseIBA 01/2021 - 09/2012
5	LipidsIBA 01/2021 - 08/2008
5	Biological ProductsIBA 12/2019 - 09/2006
4	Cerebroside-Sulfatase (Arylsulfatase A)IBA 03/2022 - 12/2008
4	DNA (Deoxyribonucleic Acid)IBA 11/2018 - 03/2012
4	CreatinineIBA 03/2018 - 04/2004
4	human GALNS proteinIBA 01/2018 - 11/2014
4	GlycosphingolipidsIBA 12/2015 - 05/2004
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	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2019 - 01/2016
3	CytokinesIBA 01/2016 - 12/2010
3	Chondroitin Sulfates (Chondroitin Sulfate)IBA 05/2015 - 01/2003
3	AntioxidantsIBA 03/2008 - 09/2006
3	chitotriosidaseIBA 03/2007 - 05/2004
3	beta-GlucosidaseIBA 12/2005 - 05/2004
2	SphingolipidsIBA 03/2022 - 12/2020
2	Sulfoglycosphingolipids (Sulfatides)IBA 03/2022 - 01/2020
2	olipudase alfaIBA 01/2022 - 01/2021
2	Therapeutic UsesIBA 01/2022 - 01/2009
2	Carbon MonoxideIBA 01/2022 - 09/2020
2	Losartan (Cozaar)FDA LinkGeneric 01/2021 - 01/2017
2	CholesterolIBA 12/2020 - 01/2016
2	valanafusp alphaIBA 04/2018 - 01/2018
2	Insulin ReceptorIBA 04/2018 - 01/2018
2	alpha-Galactosidase (Beano)IBA 03/2018 - 01/2008
2	Cathepsin BIBA 03/2018 - 03/2017
2	SphingomyelinsIBA 01/2018 - 01/2016
2	neodymium pyrocatechin disulfonate (NPD)IBA 01/2016 - 10/2004
2	ArylsulfatasesIBA 09/2014 - 12/2011
2	CollagenIBA 11/2013 - 10/2013
2	Iduronic Acid (Iduronate)IBA 09/2013 - 06/2011
2	Glucosylceramidase (Glucocerebrosidase)IBA 01/2013 - 07/2005
2	Free RadicalsIBA 06/2011 - 09/2006

Therapy/Procedure

59	Enzyme Replacement Therapy 01/2022 - 06/2005
23	Therapeutics 03/2022 - 09/2006
9	Hematopoietic Stem Cell Transplantation 01/2019 - 12/2011
2	Transplantation 10/2017 - 12/2010