{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:03:28Z","timestamp":1761487408621},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4601,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Five young patients with Niemann\u2010Pick disease type B were treated with repeated implantations of amniotic epithelial cells, as a source of exogenous sphingomyelinase. This treatment abolished the recurrent infections, mainly of the respiratory tract, and led to other improvements of the general conditions of the patients. In particular, we noticed a disappearance of vomiting, a recovery from muscular hypotrophy, and significantly reduced pulmonary distress. In four subjects, who were in a prepuberal state, there was a puberal spurt with a concomitant burst of growth. In two cases, characterized by a greater than normal content of sphingomyelin in urinary sediments, a single implantation caused a sustained normalization of sphingomyelin and total phospholipids in the urine. Finally, sphingomyelinase activity of peripheral leukocytes, when assayed 0.5 to 4 months after some of the implantations, showed a rise to heterozygous values in 30\u201340% of the assays. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440430","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:28:56Z","timestamp":1118507336000},"page":"527-533","source":"Crossref","is-referenced-by-count":30,"title":["Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells"],"prefix":"10.1002","volume":"44","author":[{"given":"Bruno","family":"Bembi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Comelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna","family":"Scaggiante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Pineschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Rapelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalba","family":"Gornati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gigliola","family":"Montorfano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Berra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriberto","family":"Agosti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/295325a0"},{"key":"e_1_2_1_3_1","first-page":"43","article-title":"Transplantation of amniotic epithelial membranes in patients with mucopolysaccaridoses","volume":"2","author":"Akle C","year":"1985","journal-title":"Exp Clin Immunogenet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/S0021-9258(18)70226-3","article-title":"Phosphorus assay on column chromatography","volume":"234","author":"Bartlett GR","year":"1959","journal-title":"J Biol Chem"},{"key":"e_1_2_1_5_1","unstructured":"BerraB(1986):Metodi di analisi delle urine per la diagnosi di sfingolipidosi. In Vaccaro AM Mondara I Muscillo M (eds): \u201cReports ISTISAN 5.\u201d pp121\u2013133."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(76)80822-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197411072911901"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010209"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109267"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.2.303"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/S0022-2275(20)38890-8","article-title":"Composition of phospholipids and aldehydes in human red cells","volume":"8","author":"Dodge JT","year":"1967","journal-title":"J Lipid Res"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197509252931304"},{"key":"e_1_2_1_13_1","volume-title":"Radiographic Atlas of Skeletal Development of the Hand and Wrist","author":"Greulich WW","year":"1950"},{"key":"e_1_2_1_14_1","first-page":"123","volume-title":"Advances in the Treatment of Inborn Errors of Metabolism","author":"Groth CG","year":"1982"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799828"},{"key":"e_1_2_1_16_1","first-page":"1","article-title":"Structure and function of the amnion","volume":"4","author":"Hoyes AD","year":"1975","journal-title":"Obstet Gynecol Annu"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.68.8.1738"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.1.6.3315809"},{"key":"e_1_2_1_19_1","first-page":"517","volume-title":"Lysosomes in Applied Biology and Therapeutics","author":"Lloyd JB","year":"1979"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-198707000-00014"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-1029-7_98"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(91)90516-W"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444957"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.41.219.454"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0022-2275(20)38884-2","article-title":"Quantitative determination of neutral glycosylceramides in human blood","volume":"8","author":"Vance DE","year":"1967","journal-title":"J Lipid Res"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.295.6610.1375"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440430","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T14:00:10Z","timestamp":1698069610000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,11]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,11]]}},"alternative-id":["10.1002\/ajmg.1320440430"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440430","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,11]]}}}