Maurizio Scarpa Selected Research

N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)

1/2019	Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
3/2015	Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.
1/2014	Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
2/2010	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
1/2010	Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
9/2009	Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
8/2008	Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
3/2008	Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
4/2006	Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

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Maurizio Scarpa Research Topics

Disease

16	Mucopolysaccharidoses 01/2022 - 03/2008
16	Mucopolysaccharidosis II (Hunter Syndrome) 04/2019 - 11/2005
13	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2022 - 04/2006
9	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2019 - 04/2006
5	Mucopolysaccharidosis I (Hurler Syndrome) 12/2018 - 06/2011
5	Disease Progression 10/2017 - 01/2010
3	Niemann-Pick Diseases (Niemann Pick Disease) 01/2022 - 01/2021
3	Inborn Genetic Diseases (Disease, Hereditary) 05/2019 - 08/2014
3	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2019 - 07/2011
2	Splenomegaly 01/2022 - 12/2021
2	Lung Diseases (Lung Disease) 12/2021 - 11/2021
2	Gaucher Disease (Gaucher's Disease) 05/2021 - 01/2011
2	Necrosis 01/2019 - 03/2008
2	Sleep Wake Disorders 01/2019 - 01/2019
2	Central Nervous System Diseases (CNS Diseases) 01/2016 - 11/2014
1	Inflammation (Inflammations) 01/2022
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021
1	Exanthema (Rash) 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2021
1	Anaphylaxis (Anaphylactic Shock) 01/2021
1	Seizures (Absence Seizure) 01/2021
1	Urticaria (Hives) 01/2021
1	Epilepsy (Aura) 01/2021
1	Fabry Disease (Fabry's Disease) 01/2020
1	Parkinson Disease (Parkinson's Disease) 01/2020
1	COVID-19 01/2020
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Kearns-Sayre Syndrome 12/2019
1	Whipple Disease (Whipple's Disease) 01/2019
1	Arthritis (Polyarthritis) 01/2019
1	Intellectual Disability (Idiocy) 11/2018
1	Peroxisomal Disorders (Peroxisomal Disorder) 01/2018
1	Brain Diseases (Brain Disorder) 12/2017
1	Neuroinflammatory Diseases 05/2017
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 01/2016
1	Body Weight (Weight, Body) 09/2015
1	Fibrosis (Cirrhosis) 09/2015
1	Wolman Disease (Wolman's Disease) 09/2015
1	Dyslipidemias (Dyslipidemia) 09/2015
1	Globoid Cell Leukodystrophy (Krabbe Disease) 08/2014
1	Pathologic Constriction (Stenosis) 01/2014
1	Hyperoxia 11/2013
1	Hip Dislocation 10/2013
1	Shock 10/2013
1	Spinal Cord Compression 01/2013
1	Status Epilepticus (Complex Partial Status Epilepticus) 10/2012
1	Cognitive Dysfunction 01/2012
1	Hypertrophy 12/2011
1	GM1 Gangliosidosis (Gangliosidosis GM1) 07/2011

Drug/Important Bio-Agent (IBA)

26	EnzymesIBA 11/2021 - 11/2005
17	GlycosaminoglycansIBA 01/2022 - 11/2005
9	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 01/2019 - 04/2006
5	Iduronic Acid (Iduronate)IBA 04/2019 - 09/2013
5	idursulfase FDA Link 10/2017 - 12/2010
4	HydrolasesIBA 01/2022 - 08/2014
4	Dermatan SulfateIBA 01/2014 - 03/2008
3	Lysergic Acid Diethylamide (LSD)IBA 01/2019 - 05/2017
3	Proteins (Proteins, Gene)FDA Link 11/2014 - 08/2010
2	olipudase alfaIBA 01/2022 - 01/2021
2	SphingomyelinsIBA 12/2021 - 11/2021
2	AcidsIBA 11/2021 - 01/2011
2	Biological ProductsIBA 01/2019 - 01/2010
2	LipidsIBA 01/2018 - 09/2015
2	RNA (Ribonucleic Acid)IBA 05/2017 - 03/2008
2	Iduronidase (alpha-L-Iduronidase)IBA 01/2017 - 06/2011
2	Heparitin Sulfate (Heparan Sulfate)IBA 09/2014 - 11/2005
1	Carbon MonoxideIBA 01/2022
1	Immunologic Factors (Immunomodulators)IBA 01/2022
1	Immunomodulating AgentsIBA 01/2022
1	Therapeutic UsesIBA 01/2022
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 11/2021
1	beta-GlucosidaseIBA 05/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2021
1	Alanine Transaminase (SGPT)IBA 01/2021
1	Tripeptidyl-Peptidase 1IBA 01/2021
1	Ile Transfer RNAIBA 12/2019
1	SteroidsIBA 01/2019
1	Immunosuppressive Agents (Immunosuppressants)IBA 01/2019
1	miglustat (Zavesca)FDA Link 10/2017
1	LigandsIBA 05/2017
1	CalciumIBA 05/2017
1	Sebelipase alfaIBA 09/2015
1	LDL CholesterolIBA 09/2015
1	Neutralizing AntibodiesIBA 03/2015
1	human GALNS proteinIBA 11/2014
1	Interleukin-6 (Interleukin 6)IBA 11/2013
1	Dihydrotachysterol (AT 10)IBA 10/2013
1	Ethosuximide (Zarontin)FDA LinkGeneric 10/2012
1	beta-Galactosidase (Lactaid)IBA 07/2011
1	Amino Acids FDA Link 07/2011
1	Nonsense Codon (Nonsense Mutation)IBA 06/2011
1	GlucosidasesIBA 01/2011

Therapy/Procedure

18	Enzyme Replacement Therapy 01/2022 - 04/2006
13	Therapeutics 01/2022 - 03/2008
4	Hematopoietic Stem Cell Transplantation 01/2019 - 12/2011
2	Pain Management 01/2021 - 01/2017
1	Terminal Care (Care, Terminal) 01/2021
1	Heart Transplantation (Grafting, Heart) 01/2020
1	Stem Cell Transplantation 01/2019
1	Surgical Decompression 01/2013