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- Publications
- Influence
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
- A. Caciotti, S. Garman, +29 authors A. Morrone
- Biology, Medicine
- Biochimica et biophysica acta
- 1 July 2011
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births… Expand
Identification and molecular characterization of six novel mutations in the UDP‐N‐acetylglucosamine‐1‐phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
- E. Persichetti, N. Chuzhanova, +18 authors T. Beccari
- Biology, Medicine
- Human mutation
- 1 June 2009
Mucolipidosis type III (MLIII) is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. In a study of 10 patients from seven families with a clinical phenotype and enzymatic… Expand
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome).
- G. Villani, G. Pontarelli, +4 authors P. di Natale
- Medicine
- Human genetics
- 2006
Diagnostic approach to hypersensitivity reactions to iodinated contrast media: a single-center experience on 98 patients.
- E. Meucci, A. Radice, +5 authors D. Macchia
- Medicine
- European annals of allergy and clinical…
- 10 January 2020
Summary
Adverse reactions to iodinated contrast media (ICM) are reported in 1%-3% of diagnostic procedures. They represent a relevant problem involving patients' safety as well as relevant costs for… Expand
La mucopolisaccaridosi di tipo I: l’importanza di una diagnosi precoce ai fini dei recenti progressi terapeutici
- G. Andria, M. Caniglia, +12 authors M. Spada
- Medicine
- 15 June 2012