{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:40:04Z","timestamp":1760733604608,"version":"build-2065373602"},"reference-count":3,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,4]]},"abstract":"<jats:p>Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.<\/jats:p>","DOI":"10.1136\/jmg.13.2.148","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"148-149","source":"Crossref","is-referenced-by-count":10,"title":["Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease."],"prefix":"10.1136","volume":"13","author":[{"given":"A H","family":"Fensom","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P F","family":"Benson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Blunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S P","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T M","family":"Coltart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1203\/00006450-197505000-00007","article-title":"Prenatal diagnosis of type II glycogenosis (Pompe's disease) using michrochemical analyses","volume":"9","author":"Niermeijer, M.F.; Koster, J.F.; Jahodova, M.; Fernandes, J.; Heukels-Dully, M.J.; Galjaard, H.","year":"1975","unstructured":"Niermeijer, M. F., Koster, J. F., Jahodova, M., Fernandes, J., Heukels-Dully, M. J. and Galjaard, H. (1975). Prenatal diagnosis of type II glycogenosis (Pompe's disease) using michrochemical analyses. Paediatric Research, 9, 498-503.","journal-title":"Paediatric Research"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2219","DOI":"10.1055\/s-0028-1108114","article-title":"Pranatale diagnose einer Glykogenose Typ II (Pompe) mit nachfolgender Interruptio","volume":"99","author":"Schaub, J.; Osang, M.; von Bassewitz, D.B.; Grote, W.; Terinde, R.; Lombeck, I.; Bremer, H.J.","year":"1974","unstructured":"Schaub, J., Osang, M., von Bassewitz, D. B., Grote, W., Terinde, R., Lombeck, I. and Bremer, H. J. (1974). Pranatale diagnose einer Glykogenose Typ II (Pompe) mit nachfolgender Interruptio. Deutsche Medizinishe Wochenschrift, 99, 2219-2222.","journal-title":"Deutsche Medizinishe Wochenschrift"},{"key":"ref_3","article-title":"Faed for allowing us to study and report Case 2; Mr","volume-title":"for technical assistance, the Department of Health and Social Security and the Spastics Society for support","author":"thank Dr M, We","unstructured":"We thank Dr M. Faed for allowing us to study and report Case 2; Mr A. W. Babarik and Mrs A. R. Grant for technical assistance, the Department of Health and Social Security and the Spastics Society for support."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.2.148","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:21:29Z","timestamp":1760732489000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.2.148"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,4]]},"references-count":3,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1976,4,1]]},"published-print":{"date-parts":[[1976,4]]}},"alternative-id":["10.1136\/jmg.13.2.148"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.2.148","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,4]]}}}