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GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
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 birthsExpand
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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 enzymaticExpand
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Diagnostic approach to hypersensitivity reactions to iodinated contrast media: a single-center experience on 98 patients.
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 forExpand