Orazio Gabrielli Selected Research

Marfan Syndrome (Marfan's Syndrome)

1/2006

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

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Orazio Gabrielli Research Topics

Disease

10	Mucopolysaccharidoses 01/2022 - 03/2004
3	Mucopolysaccharidosis II (Hunter Syndrome) 01/2022 - 01/2012
3	Down Syndrome (Down's Syndrome) 01/2018 - 01/2005
2	Mucopolysaccharidosis I (Hurler Syndrome) 03/2016 - 06/2011
2	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 06/2015 - 12/2014
2	Disease Progression 02/2015 - 01/2010
1	Infections 06/2020
1	Joint Diseases (Joint Disease) 03/2016
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 02/2015
1	Neurologic Manifestations (Neurological Manifestations) 02/2015
1	Intellectual Disability (Idiocy) 05/2013
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 05/2013
1	Mucopolysaccharidosis IV (Morquio Syndrome) 01/2013
1	Diabetes Complications 03/2011
1	Congenital Hyperinsulinism 01/2010
1	Marfan Syndrome (Marfan's Syndrome) 01/2006
1	Fabry Disease (Fabry's Disease) 10/2004
1	Heart Failure 10/2004
1	Kabuki syndrome 01/2002

Drug/Important Bio-Agent (IBA)

9	GlycosaminoglycansIBA 01/2022 - 03/2004
4	EnzymesIBA 01/2018 - 03/2004
3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2005
2	HydrolasesIBA 01/2022 - 01/2022
2	Heparitin Sulfate (Heparan Sulfate)IBA 06/2020 - 05/2013
2	Chondroitin Sulfates (Chondroitin Sulfate)IBA 06/2020 - 11/2013
2	coenzyme Q10 (CoQ10)IBA 01/2018 - 03/2012
2	Iduronidase (alpha-L-Iduronidase)IBA 03/2016 - 06/2011
2	Dermatan SulfateIBA 11/2013 - 10/2013
1	Iduronic Acid (Iduronate)IBA 01/2022
1	Nucleic AcidsIBA 01/2018
1	Uronic AcidsIBA 12/2016
1	Biomarkers (Surrogate Marker)IBA 12/2016
1	miglustat (Zavesca)FDA Link 02/2015
1	SulfatasesIBA 12/2014
1	N-formylglycineIBA 12/2014
1	SphingolipidsIBA 12/2014
1	SteroidsIBA 12/2014
1	Sulfates (Sulfates, Inorganic)IBA 12/2014
1	Sulfoglycosphingolipids (Sulfatides)IBA 12/2014
1	CreatinineIBA 05/2013
1	Diphosphonates (Bisphosphonates)IBA 01/2013
1	Keratan SulfateIBA 01/2013
1	idursulfase FDA Link 01/2012
1	Sepharose (Agarose)IBA 11/2011
1	Nonsense Codon (Nonsense Mutation)IBA 06/2011
1	HexosaminesIBA 04/2011
1	Adenosine Triphosphatases (ATPase)IBA 03/2011
1	Dihydroxyphenylalanine (Dopa)IBA 01/2010
1	Fibrillin-1IBA 01/2006
1	Transforming Growth Factor-beta Type II ReceptorIBA 01/2006
1	Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA 01/2006
1	alpha-Galactosidase (Beano)IBA 10/2004
1	Hormones (Hormone)IBA 01/2002
1	Growth Hormone (Somatotropin)IBA 01/2002

Therapy/Procedure

5	Enzyme Replacement Therapy 01/2022 - 10/2004
3	Therapeutics 03/2016 - 01/2010