title: [A cluster of mucolipidosis III in a village of Calabria].
abstract: The authors report three cases of patients with clinical findings of Mucolipidosis III. Contractures of joint, stiffness of the hands short stature and coarse faces were observed. The lisosomal enzyme activities in serum and leucocytes were measured. The same activities were measured in extracts and by means of cultured skin fibroblast cells. These data are concordant with literature. These patients come from a Calabrian village of 100 habitants 90% of whom have the same surname.
mesh_terms: D000328:Adult; D001851:Bone Diseases, Metabolic / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D007558:Italy; D008247:Lysosomes / Q000032:analysis; D008297:Male; D009081:Mucolipidoses / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics; D011859:Radiography; D013029:Space-Time Clustering
chemical_list: D006867:Hydrolases
vernacular_title: Un "cluster" di Mucolipidosi III in un paesino della Calabria.