{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T07:51:08Z","timestamp":1766908268583},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1993,3,1]],"date-time":"1993-03-01T00:00:00Z","timestamp":730944000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report the results over 15 years (1977\u20131991) 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.<\/jats:p><jats:p>We also report the analysis of genomic DNA from 11 unrelated Italian Hunter patients, using pc2S15 probe. DNA from two patients, digested with Pst\u2010I, showed a variant pattern of hybridization caused by deletion or rearrangement of the gene.<\/jats:p>","DOI":"10.1007\/bf00710300","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T12:15:16Z","timestamp":1101903316000},"page":"473-483","source":"Crossref","is-referenced-by-count":13,"title":["Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15\u2010year period (1977\u20131991)"],"prefix":"10.1002","volume":"16","author":[{"given":"P.","family":"Di Natale","sequence":"first","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Annella","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Daniele","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"De Luca","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Morabito","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Pallini","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Rosario","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Spagnuolo","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche, II Facolt\u00e0 di Medicina e Chirurgia Universit\u00e0 degli Studi di Napoli Federico II  Via Sergio Pansini n. 5 Naples I\u201080131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1993,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00832.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281065"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(67)90087-5"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01804384"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000406293"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90224-8"},{"key":"e_1_2_1_8_1","first-page":"113","volume-title":"Perspectives in Inherited Metabolic Diseases, vol. 2","author":"Di Natale P","year":"1979"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070811"},{"key":"e_1_2_1_10_1","first-page":"65","article-title":"Estimation ofN\u2010acetylglucosamine\u20106\u2010sulfate sulfatase with the fluorogenic substrate 4\u2010methylumbelliferyl\u2010\u03b2\u2010N\u2010acetylglucosaminide\u20106\u2010sulfate","volume":"16","author":"Emiliani C","year":"1991","journal-title":"Bull Mol Biol Med"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008208209160269"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196903272801303"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435972"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970050209"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(78)50048-7"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90269-2"},{"key":"e_1_2_1_17_1","first-page":"381","article-title":"The mucopolysaccharidoses. 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