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Stefano Quinzani Selected Research

galactosylxylosylprotein 3-beta-galactosyltransferase

3/2015Insights 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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Stefano Quinzani Research Topics

Disease

1Spondyloepimetaphyseal Dysplasia With Joint Laxity
03/2015
1Acute Kidney Injury (Acute Renal Failure)
01/2014
1Renal hypouricemia
01/2014
1Inborn Genetic Diseases (Disease, Hereditary)
01/2014
1Nephrolithiasis
01/2014
1Infections
01/2012

Drug/Important Bio-Agent (IBA)

1galactosylxylosylprotein 3-beta-galactosyltransferaseIBA
03/2015
1Proteoglycans (Proteoglycan)IBA
03/2015
1GlycosaminoglycansIBA
03/2015
1Uric Acid (Urate)IBA
01/2014
1Peptides (Polypeptides)IBA
01/2012