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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
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).
Diagnostic approach to hypersensitivity reactions to iodinated contrast media: a single-center experience on 98 patients.
- E. Meucci, A. Radice, +5 authors D. Macchia
- 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