Mannosidosis is a human lysosomal storage disease caused by and acid alpha-mannosidase deficiency. We have studied two affected Italian families and in this paper discuss the problems concerning the clinical and radiological findings, and laboratory assay as an access to diagnosis. Reference is made to our personal experience, as concerns the difficulties of carrier detection and of prenatal diagnosis.
View Article and Find Full Text PDFOf 80 children with proved coeliac disease, 2 presented with an associated disease of the distal portion of the large intestine. In one child the family history and the extension, localisation, and characteristics of intestinal lesions made us suspect ulcerative colitis; in the other we made a diagnosis of milk-induced colitis.
View Article and Find Full Text PDFAnn Ist Super Sanita
January 1973