title: Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).
abstract: We report the results over 15 years (1977-1991) for biochemical diagnoses of patients referred from throughout Italy and suspected of having a mucopolysaccharidosis. Of these, 147 patients were diagnosed as being homozygous or hemizygous for a specific lysosomal enzyme deficiency; 74 pregnancies at risk were monitored in their families; 76 heterozygote diagnoses were performed on their relatives, with a total of 48 positive diagnoses. We also report the analysis of genomic DNA from 11 unrelated Italian Hunter patients, using pc2S15 probe. DNA from two patients, digested with Pst-I, showed a variant pattern of hybridization caused by deletion or rearrangement of the gene.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, II Facoltà di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Di Natale
authors.forename: T
authors.initials: T
authors.lastname: Annella
authors.forename: A
authors.initials: A
authors.lastname: Daniele
authors.forename: T
authors.initials: T
authors.lastname: De Luca
authors.forename: E
authors.initials: E
authors.lastname: Morabito
authors.forename: R
authors.initials: R
authors.lastname: Pallini
authors.forename: P
authors.initials: P
authors.lastname: Rosario
authors.forename: G
authors.initials: G
authors.lastname: Spagnuolo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000172:deficiency; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008214:Lymphocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D012016:Reference Values
chemical_list: D004798:Enzymes