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Agata Fiumara Selected Research

Mucopolysaccharidosis II (Hunter Syndrome)

9/2014Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

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Agata Fiumara Research Topics

Disease

9Congenital Disorders of Glycosylation
01/2022 - 12/2005
8Mucopolysaccharidoses
01/2022 - 03/2002
6Inborn Genetic Diseases (Disease, Hereditary)
08/2021 - 08/2008
5Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
08/2021 - 08/2008
4Disease Progression
11/2019 - 07/2012
3Gaucher Disease (Gaucher's Disease)
05/2021 - 11/2016
3Glycogen Storage Disease Type II (Pompe's Disease)
01/2018 - 12/2010
2Seizures (Absence Seizure)
07/2021 - 01/2021
2GM1 Gangliosidosis (Gangliosidosis GM1)
11/2019 - 02/2007
2Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
02/2015 - 07/2012
2Neurologic Manifestations (Neurological Manifestations)
02/2015 - 07/2012
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
08/2013 - 03/2008
1Peripheral Nervous System Diseases (PNS Diseases)
08/2021
1Cerebellar Diseases (Cerebellar Syndrome)
08/2021
1Atrophy
08/2021
1Ataxia (Dyssynergia)
08/2021
1Intellectual Disability (Idiocy)
07/2021
1Neuroepithelial Neoplasms (Gliomatosis Cerebri)
07/2021
1Focal Cortical Dysplasia
07/2021
1Infantile Spasms (West Syndrome)
07/2021
1Malformations of Cortical Development
07/2021
1Lissencephaly
07/2021
1Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/2021
1Glycogen Storage Disease XIV
01/2021
1Cough
01/2021
1Parkinson Disease (Parkinson's Disease)
01/2021
1Hepatolenticular Degeneration (Wilson's Disease)
12/2020
1Thrombocytopenia (Thrombopenia)
12/2020
1COVID-19
08/2020
1Chronic Disease (Chronic Diseases)
08/2020
1Virus Diseases (Viral Diseases)
08/2020
1Reinfection
12/2019
1Neuraminidase deficiency with beta-galactosidase deficiency
11/2019
1Spinal Cord Diseases
08/2019
1Hypersensitivity (Allergy)
11/2016
1Autism Spectrum Disorder
04/2016
1Niemann-Pick Diseases (Niemann Pick Disease)
04/2016
1GM2 Gangliosidoses (GM2 Gangliosidosis)
04/2016
1Fabry Disease (Fabry's Disease)
01/2016
1Brain Diseases (Brain Disorder)
01/2016
1Epilepsy (Aura)
01/2016
1Mucopolysaccharidosis II (Hunter Syndrome)
09/2014
1Muscular Dystrophies (Muscular Dystrophy)
07/2014
1Microcephaly
10/2012
1Muscle Hypotonia (Hypotonia)
10/2012
1Metabolic Diseases (Metabolic Disease)
10/2012
1Drug Resistant Epilepsy
10/2012
1Globoid Cell Leukodystrophy (Krabbe Disease)
12/2010
1Craniocerebral Trauma (Head Injury)
12/2008
1Stroke (Strokes)
12/2008
1Hematoma
12/2008
1Anemia
12/2008
1Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)
12/2008

Drug/Important Bio-Agent (IBA)

9Proteins (Proteins, Gene)FDA Link
12/2020 - 02/2007
7Polysaccharides (Glycans)IBA
01/2022 - 12/2005
7EnzymesIBA
08/2021 - 06/2006
6GlycosaminoglycansIBA
01/2022 - 03/2008
6LipidsIBA
12/2019 - 07/2012
4Glycoproteins (Glycoprotein)IBA
01/2022 - 12/2005
4Biomarkers (Surrogate Marker)IBA
01/2021 - 03/2008
4miglustat (Zavesca)FDA Link
11/2019 - 07/2012
3GlycolipidsIBA
01/2022 - 12/2005
3Congenital disorder of glycosylation type 1AIBA
08/2021 - 07/2014
3Heparitin Sulfate (Heparan Sulfate)IBA
01/2021 - 03/2002
2Pharmaceutical PreparationsIBA
07/2021 - 01/2021
2Anticonvulsants (Antiepileptic Drugs)IBA
01/2021 - 01/2016
2GlycosphingolipidsIBA
11/2019 - 07/2012
2Transferrin (beta 2 Transferrin)IBA
01/2016 - 12/2005
2AcidsIBA
11/2012 - 12/2010
2alpha-Glucosidases (Acid Maltase)IBA
11/2012 - 12/2010
2Dermatan SulfateIBA
03/2008 - 03/2002
1HydrolasesIBA
01/2022
1GlycoconjugatesIBA
08/2021
1beta-GlucosidaseIBA
05/2021
1Ambroxol (Mucosolvan)IBA
01/2021
1Expectorants (Mucolytics)IBA
01/2021
1GlycogenIBA
01/2021
1PhosphoglucomutaseIBA
01/2021
1Ceruloplasmin (Ferroxidase)IBA
12/2020
1CopperIBA
12/2020
1Immunoglobulins (Immunoglobulin)IBA
12/2019
1G(M1) GangliosideIBA
11/2019
1phosphomannomutaseIBA
01/2019
1Uronic AcidsIBA
12/2016
1Glucosylceramidase (Glucocerebrosidase)IBA
11/2016
1imigluceraseFDA Link
11/2016
17-ketocholesterolIBA
04/2016
1idursulfaseFDA Link
09/2014
1Iduronic Acid (Iduronate)IBA
09/2014
1Creatine Kinase (Creatine Phosphokinase)IBA
10/2012
1CholesterolIBA
07/2012
1GalactosylceramidaseIBA
12/2010
1Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
12/2008
1Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
03/2008

Therapy/Procedure

7Therapeutics
01/2021 - 03/2008
5Enzyme Replacement Therapy
08/2020 - 03/2008
1Activities of Daily Living (ADL)
08/2021
1Drug Therapy (Chemotherapy)
11/2019
1Transcranial Magnetic Stimulation
08/2019
1Ligation
01/2016