Chiara Dordoni Selected Research

galactosylxylosylprotein 3-beta-galactosyltransferase

3/2015

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

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Chiara Dordoni Research Topics

Disease

2	Prolapse 05/2013 - 09/2012
1	Autosomal Dominant Polycystic Kidney (ADPKD) 03/2022
1	Motor Skills Disorders (Motor Skills Disorder) 01/2019
1	Neurodevelopmental Disorders 01/2019
1	Cutis Laxa 10/2017
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 03/2015
1	Visceral Prolapse (Visceroptosis) 05/2013
1	Venous Thrombosis (Deep-Vein Thrombosis) 09/2012
1	Cicatrix (Scar) 09/2012
1	Hemorrhage 09/2012

Drug/Important Bio-Agent (IBA)

1	dicarboxydine (DCD)IBA 01/2019
1	GlycosaminoglycansIBA 03/2015
1	galactosylxylosylprotein 3-beta-galactosyltransferaseIBA 03/2015
1	Proteoglycans (Proteoglycan)IBA 03/2015

Therapy/Procedure

1	Herniorrhaphy 03/2022
1	Liver Transplantation 03/2022
1	Semiconductors 10/2017
1	Gastrectomy 05/2013
1	Operative Surgical Procedures 05/2013
1	Gastropexy 05/2013
1	Gastroenterostomy 05/2013
1	Episiotomy 09/2012