GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Author:

Caciotti Anna,Garman Scott C.,Rivera-Colón Yadilette,Procopio Elena,Catarzi Serena,Ferri Lorenzo,Guido Carmen,Martelli Paola,Parini Rossella,Antuzzi Daniela,Battini Roberta,Sibilio Michela,Simonati Alessandro,Fontana Elena,Salviati Alessandro,Akinci Gulcin,Cereda Cristina,Dionisi-Vici Carlo,Deodato Francesca,d'Amico Adele,d'Azzo Alessandra,Bertini Enrico,Filocamo Mirella,Scarpa Maurizio,di Rocco Maja,Tifft Cynthia J.,Ciani Federica,Gasperini Serena,Pasquini Elisabetta,Guerrini Renzo,Donati Maria Alice,Morrone Amelia

Funder

Actelion Pharmaceuticals Italia

Associazione Italiana Mucopolisaccaridosi e malattie affini (AIMPS)

Associazione Malattie Metaboliche Congenite Ereditarie (AMMEC)

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference44 articles.

1. β-Galactosidase deficiency (β-galactosidosis) GM1 gangliosidosis and Morquio B disease;Suzuki,2001

2. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients;Caciotti;Am. J. Pathol.,2005

3. GM1 gangliosidosis, review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri;Mol. Genet. Metab.,2008

4. Incidence of the mucopolysaccharidoses in Northern Ireland;Nelson;Hum. Genet.,1997

5. Incidence of the mucopolysaccharidoses in Western Australia;Nelson;Am. J. Med. Genet. A,2003

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