Andrea Superti-Furga Selected Research

Omani type Spondyloepiphyseal dysplasia

10/2010	Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
6/2008	Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

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Andrea Superti-Furga Research Topics

Disease

8	Diastrophic dysplasia 01/2021 - 10/2003
5	Intellectual Disability (Idiocy) 01/2022 - 10/2003
5	Hyaline Fibromatosis Syndrome 01/2020 - 10/2003
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 03/2011
4	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 02/2007 - 10/2003
3	Epilepsy (Aura) 10/2021 - 01/2021
3	Contracture 10/2021 - 03/2011
3	Disease Progression 01/2021 - 07/2009
3	Joint Instability (Joint Laxity) 10/2019 - 12/2011
3	Joint Diseases (Joint Disease) 08/2012 - 02/2007
3	Larsen Syndrome 10/2010 - 04/2004
2	Lactic Acidosis 08/2021 - 02/2012
2	Cataract (Cataracts) 01/2021 - 02/2012
2	Channelopathies 01/2021 - 07/2010
2	Paraplegia (Spastic Paraplegia) 01/2021 - 07/2007
2	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2020 - 08/2014
2	Achondrogenesis 02/2019 - 03/2005
2	Desbuquois syndrome 01/2017 - 10/2010
2	Osteolysis hereditary multicentric 09/2016 - 02/2007
2	Osteolysis 01/2016 - 02/2007
2	CODAS syndrome 11/2015 - 07/2015
2	Congenital Abnormalities (Deformity) 10/2015 - 07/2010
2	Osteopetrosis 10/2015 - 01/2003
2	Jeune syndrome 03/2015 - 05/2013
2	Muscular Diseases (Myopathy) 10/2014 - 02/2012
2	Marfan Syndrome (Marfan's Syndrome) 10/2014 - 07/2011
2	Pyle disease 10/2013 - 01/2007
2	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 03/2013 - 10/2005
2	Enchondromatosis (Ollier Disease) 11/2012 - 04/2011
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 02/2012 - 08/2005
2	Osteogenesis Imperfecta (Lobstein Disease) 03/2011 - 04/2010
2	Omani type Spondyloepiphyseal dysplasia 10/2010 - 06/2008
2	Joint Dislocations 10/2010 - 06/2008
2	Respiratory Tract Infections (Respiratory Tract Infection) 09/2009 - 07/2009
2	Atelosteogenesis Type 3 07/2006 - 04/2004
1	Lipodystrophy 09/2022
1	Werner Syndrome (Werner's Syndrome) 09/2022
1	Glaucoma 01/2022
1	Hypertelorism 01/2022
1	Dyskinesias (Dyskinesia) 10/2021
1	Brain Diseases (Brain Disorder) 10/2021
1	Megalencephaly 10/2021
1	Seizures (Absence Seizure) 10/2021
1	Hyperglycemia 08/2021
1	Ketosis 08/2021
1	Hyperlactatemia 08/2021
1	Homocystinuria 06/2021
1	Diarrhea 03/2021
1	Achondrogenesis type 1A 01/2021
1	Cerebrotendinous Xanthomatosis 01/2021
1	Movement Disorders (Movement Disorder) 01/2021
1	Visceral Leishmaniasis (Kala Azar) 01/2021
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2021
1	Body Weight (Weight, Body) 01/2021

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2022 - 10/2003
6	EnzymesIBA 01/2017 - 04/2005
6	Sulfate TransportersIBA 07/2010 - 10/2003
4	Sulfates (Sulfates, Inorganic)IBA 01/2021 - 09/2006
4	CollagenIBA 12/2017 - 08/2004
3	Calcium Channels (Calcium Channel)IBA 10/2021 - 11/2011
3	AcidsIBA 11/2012 - 12/2005
3	FilaminsIBA 10/2010 - 07/2006
2	Insulin (Novolin)FDA Link 09/2022 - 08/2021
2	Chenodeoxycholic Acid (Chenix)FDA Link 03/2021 - 01/2021
2	ChloridesIBA 01/2021 - 10/2015
2	Acetylcysteine (Siran)FDA LinkGeneric 01/2021 - 10/2015
2	anthrax toxin receptorsIBA 01/2020 - 04/2011
2	Polysaccharides (Glycans)IBA 01/2020 - 02/2019
2	zinc-binding protein (zinc binding protein)IBA 01/2020 - 08/2014
2	Proteoglycans (Proteoglycan)IBA 02/2019 - 07/2010
2	SulfotransferasesIBA 01/2019 - 10/2010
2	Membrane Proteins (Integral Membrane Proteins)IBA 12/2017 - 04/2011
2	BiglycanIBA 01/2017 - 01/2016
2	GlycosaminoglycansIBA 01/2017 - 12/2014
2	Matrix Metalloproteinase 2 (Gelatinase A)IBA 09/2016 - 02/2007
2	Peptide Hydrolases (Proteases)FDA Link 11/2015 - 07/2015
2	SteroidsIBA 12/2014 - 01/2010
2	CyclinsIBA 11/2013 - 03/2008
2	CalciumIBA 10/2013 - 04/2005
2	Alkaline PhosphataseIBA 10/2013 - 04/2005
2	Growth Hormone (Somatotropin)IBA 09/2013 - 03/2013
2	Retinaldehyde (Retinal)IBA 05/2013 - 10/2011
2	Cartilage Oligomeric Matrix ProteinIBA 01/2012 - 02/2007
2	DNA (Deoxyribonucleic Acid)IBA 11/2011 - 04/2011
2	Carbohydrate SulfotransferasesIBA 10/2010 - 06/2008
2	Chondroitin Sulfate ProteoglycansIBA 07/2010 - 06/2008
1	Capsules (Microcapsules)IBA 01/2022
1	Topiramate (Topamax)FDA LinkGeneric 10/2021
1	mannosamine (D-mannosamine)IBA 09/2021
1	N-acetylneuraminate synthaseIBA 09/2021
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 08/2021
1	Glucose (Dextrose)FDA LinkGeneric 08/2021
1	HomocysteineIBA 06/2021
1	Potassium Channels (Potassium Channel)IBA 01/2021
1	PotassiumIBA 01/2021
1	Biological ProductsIBA 01/2021
1	Complement System Proteins (Complement)IBA 01/2021

Therapy/Procedure

7	Therapeutics 01/2021 - 09/2009
1	Hematopoietic Stem Cell Transplantation 01/2021