Federico Mingozzi Selected Research

N-sulfoglucosamine sulfohydrolase (sulfamidase)

1/2013	Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
12/2012	Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer.

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Federico Mingozzi Research Topics

Disease

19	Hemophilia B (Haemophilia B) 01/2022 - 01/2004
12	Glycogen Storage Disease Type II (Pompe's Disease) 02/2024 - 10/2012
9	Hemorrhage 01/2023 - 08/2004
7	Hemophilia A (Haemophilia) 11/2021 - 03/2006
6	Infections 07/2020 - 10/2007
4	Inflammation (Inflammations) 10/2021 - 01/2013
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 05/2003
3	Crigler-Najjar Syndrome 08/2023 - 01/2016
3	Protein Deficiency 10/2019 - 08/2004
3	Mucopolysaccharidosis III (Sanfilippo Syndrome) 04/2015 - 12/2012
2	Cardiomegaly (Heart Hypertrophy) 02/2024 - 11/2017
2	Muscular Diseases (Myopathy) 02/2024 - 01/2015
2	Muscle Weakness 02/2024 - 01/2018
2	Thrombotic Microangiopathies 01/2024 - 07/2020
2	Hyperbilirubinemia 08/2023 - 03/2021
2	Maple Syrup Urine Disease 03/2023 - 01/2022
2	Hepatocellular Carcinoma (Hepatoma) 09/2020 - 01/2020
2	Neoplasms (Cancer) 07/2020 - 03/2011
2	Fabry Disease (Fabry's Disease) 01/2018 - 01/2015
2	Blindness (Hysterical Blindness) 08/2016 - 11/2009
2	Neuroinflammatory Diseases 04/2015 - 12/2012
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 04/2015 - 01/2015
2	Autoimmune Diseases (Autoimmune Disease) 01/2013 - 01/2013
2	Hypersensitivity (Allergy) 01/2013 - 01/2013
2	Activated Protein C Resistance (APC Resistance) 03/2005 - 06/2003
2	Venous Thromboembolism 03/2005 - 06/2003
1	Headache (Headaches) 08/2023
1	Jaundice (Icterus) 08/2023
1	von Willebrand Diseases (von Willebrand's Disease) 01/2023
1	Clinical Deterioration 07/2022
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022
1	Perinatal Death 01/2022
1	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 10/2021
1	Congenital Abnormalities (Deformity) 10/2021
1	Down Syndrome (Down's Syndrome) 10/2021
1	Brain Diseases (Brain Disorder) 10/2021
1	Uveitis 10/2021
1	Ornithine Carbamoyltransferase Deficiency Disease 03/2021
1	Coma (Comas) 03/2021
1	Thrombosis (Thrombus) 07/2020
1	Parkinson Disease (Parkinson's Disease) 01/2020
1	Sarcoglycanopathies 12/2019
1	Vacuolar myopathy 10/2019
1	Neuromuscular Manifestations 01/2018
1	Familial Dysautonomia (Riley Day Syndrome) 01/2018
1	Glycogen Storage Disease Type III (Cori's Disease) 01/2018

Drug/Important Bio-Agent (IBA)

17	Factor IX (Coagulation Factor IX)FDA LinkGeneric 01/2022 - 01/2004
13	EnzymesIBA 02/2024 - 01/2015
12	AcidsIBA 02/2024 - 10/2012
8	GlucosidasesIBA 02/2024 - 10/2012
6	AntibodiesIBA 01/2020 - 07/2012
6	AntigensIBA 01/2013 - 08/2004
5	Retinaldehyde (Retinal)IBA 08/2016 - 05/2008
4	GlycogenIBA 02/2024 - 11/2017
4	alpha-Glucosidases (Acid Maltase)IBA 11/2021 - 03/2019
4	Proteins (Proteins, Gene)FDA Link 01/2020 - 11/2009
3	Factor VIII (Coagulation Factor VIII)IBA 11/2021 - 03/2005
3	DNA (Deoxyribonucleic Acid)IBA 01/2015 - 03/2011
2	Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA 08/2023 - 03/2021
2	Branched-Chain Amino AcidsIBA 03/2023 - 01/2022
2	von Willebrand FactorIBA 01/2023 - 07/2020
2	AnticoagulantsIBA 07/2020 - 01/2020
2	Glucose (Dextrose)FDA LinkGeneric 01/2020 - 05/2013
2	Blood Coagulation Factors (Coagulation Factor)IBA 01/2020 - 01/2016
2	EpitopesIBA 12/2019 - 10/2012
2	human GAA protein (Myozyme)FDA Link 11/2016 - 10/2012
2	GlycosaminoglycansIBA 04/2015 - 01/2013
2	Lysergic Acid Diethylamide (LSD)IBA 04/2015 - 01/2013
2	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 01/2013 - 12/2012
1	Complement System Proteins (Complement)IBA 01/2024
1	UridineIBA 08/2023
1	Oxidoreductases (Dehydrogenase)IBA 03/2023
1	Complementary DNA (cDNA)IBA 01/2022
1	Factor VII (Proconvertin)IBA 11/2021
1	Fibroblast Growth Factor-23IBA 10/2021
1	gamma-Aminobutyric Acid (GABA)IBA 10/2021
1	ChloridesIBA 10/2021
1	Immunologic Factors (Immunomodulators)IBA 10/2021
1	AmmoniaIBA 03/2021
1	Uridine Diphosphate (UDP)IBA 03/2021
1	Valoctocogene RoxaparvovecIBA 01/2021
1	BilirubinIBA 09/2020
1	Hemostatics (Antihemorrhagics)IBA 07/2020
1	Factor V (Coagulation Factor V)IBA 07/2020
1	Transaminases (Aminotransferases)IBA 01/2020
1	AntithrombinsIBA 01/2020
1	Fetal Proteins (Fetoprotein)IBA 01/2020
1	Single-Domain AntibodiesIBA 01/2020
1	Untranslated RNA (Noncoding RNA)IBA 01/2020
1	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 01/2020
1	Sarcoglycans (beta Sarcoglycan)IBA 12/2019
1	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 01/2018

Therapy/Procedure

13	Therapeutics 07/2022 - 05/2003
6	Enzyme Replacement Therapy 11/2017 - 10/2012
2	Intravenous Infusions 08/2023 - 11/2014
1	Liver Transplantation 08/2023
1	Phototherapy (Light Therapy) 08/2023
1	Surgical Instruments (Clip) 01/2022
1	Organ Transplantation 01/2022
1	Intravitreal Injections 10/2021