[Mannosidosis. Study of two families and prenatal diagnosis].
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.
D002855:Chromatography, Thin Layer; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D008361:Mannosidases
La mannosidosi. Studio di due famiglie e diagnosi prenatale.