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Alessandra d'Azzo Selected Research

beta-Galactosidase (Lactaid)

7/2011GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
1/2005Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
9/2004GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis.

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Alessandra d'Azzo Research Topics

Disease

8Lysosomal Storage Diseases (Lysosomal Storage Disease)
10/2013 - 07/2005
7Mucolipidoses (Sialidosis)
06/2014 - 06/2002
5GM1 Gangliosidosis (Gangliosidosis GM1)
07/2011 - 08/2004
2Gangliosidoses (Gangliosidosis)
05/2015 - 06/2007
2Sandhoff Disease (Sandhoff's Disease)
05/2015 - 06/2007
2Hydrops Fetalis (Fetal Edema)
07/2005 - 05/2004
2Neurodegenerative Diseases (Neurodegenerative Disease)
09/2004 - 08/2004
1Fibrosis (Cirrhosis)
09/2015
1Confusion (Bewilderment)
01/2013
1Pathologic Processes
05/2012
1Emphysema
05/2012
1Infertility (Sterility)
02/2012
1Mucopolysaccharidosis IV (Morquio Syndrome)
07/2011
1Hearing Loss (Hearing Impairment)
02/2010
1Congenital Structural Myopathies (Centronuclear Myopathy)
03/2009
1Edema
06/2002
1Kyphosis
06/2002
1Splenomegaly
06/2002
1Ataxia (Dyssynergia)
05/2002

Drug/Important Bio-Agent (IBA)

7Neuraminidase deficiency with beta-galactosidase deficiencyIBA
06/2014 - 06/2002
65'-deoxy-5'-phosphonomethyladenosine phosphateIBA
06/2014 - 05/2002
4Neuraminidase (Sialidase)IBA
10/2013 - 07/2005
3beta-Galactosidase (Lactaid)IBA
07/2011 - 09/2004
2GalactosidasesIBA
05/2015 - 01/2010
2OligosaccharidesIBA
07/2005 - 06/2002
1Collagen Type III (Type III Collagen)IBA
09/2015
1GangliosidesIBA
05/2015
1Hexosaminidases (Hexosaminidase)IBA
05/2015
1bis(monoacylglyceryl)phosphateIBA
05/2015
1G(M2) Ganglioside (Ganglioside GM2)IBA
05/2015
1EnzymesIBA
06/2014
1Protein Isoforms (Isoforms)IBA
01/2013
1Cathepsin AIBA
02/2012
1Triple X syndromeIBA
07/2011
1Glycoproteins (Glycoprotein)IBA
12/2010
1HydrolasesIBA
12/2010
1Lysosome-Associated Membrane GlycoproteinsIBA
02/2010
1Lysergic Acid Diethylamide (LSD)IBA
02/2010
1Dynamins (Dynamin)IBA
03/2009
1Retinaldehyde (Retinal)IBA
06/2007
1GlycosphingolipidsIBA
06/2007
1Messenger RNA (mRNA)IBA
02/2007
1Proteins (Proteins, Gene)IBA
02/2007
1acid beta-galactosidaseIBA
08/2004
1G(M1) GangliosideIBA
08/2004

Therapy/Procedure

1Enzyme Replacement Therapy
07/2005