{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:22:12Z","timestamp":1764994932850,"version":"3.46.0"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>Mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) has been described in association with non-immune hydrops fetalis. Three consecutive pregnancies in an itinerant family, which resulted in stillbirths caused by non-immune hydrops are described. The parents were closely related and there was a strong family history of storage disorders. The main clue to the diagnosis, however, came from the presence of pronounced foamy cytoplasmic change in the villous Hofbauer cells of the placenta. This raised the possibility of an inherited metabolic storage disorder. The parents were subsequently shown to have beta glucuronidase activities in the heterozygous range in leucocytes and fibroblasts which suggested that the non-immune hydrops was caused by beta glucuronidase deficiency.<\/jats:p>","DOI":"10.1136\/jcp.46.4.370","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"370-371","source":"Crossref","is-referenced-by-count":34,"title":["Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis."],"prefix":"10.1136","volume":"46","author":[{"given":"J","family":"Nelson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Kenny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"O'Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Harper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Broadhead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/BF00427708","article-title":"Foamy changes of placental cells in fetal storage disorders","volume":"369","author":"Powell, H.C.; Benirschke, K.; Favara, B.E.; Pflueger, O.H.","year":"1976","unstructured":"Powell HC, Benirschke K, Favara BE, Pflueger OH. Foamy changes of placental cells in fetal storage disorders. Virchows Arch (PatholAnat) 1976;369:191-6.","journal-title":"Virchows Arch (PatholAnat)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1399-0004.1977.tb01286.x","article-title":"Morphology of the placenta in fetal Icell disease","volume":"11","author":"Rapola, J.; Aula, P.","year":"1977","unstructured":"Rapola J, Aula P. Morphology of the placenta in fetal Icell disease. Clin Genet 1977;11:107-13.","journal-title":"Clin Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1056\/NEJM197302012880502","article-title":"Prenatal diagnosis of GM,-gangliosidosis","volume":"288","author":"Lowden, J.A.; Cutz, E.; Conen, P.E.; Rudd, N.; Doran, T.A.","year":"1973","unstructured":"Lowden JA, Cutz E, Conen PE, Rudd N, Doran TA. Prenatal diagnosis of GM,-gangliosidosis. N Engl J Med 1973;288:225-8.","journal-title":"N Engl J Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0022-3476(84)80997-X","article-title":"Congenital ascites as a presenting sign of lysosomal storage disease","volume":"104","author":"Gillan, J.E.; Lowden, J.A.; Gaskin, K.; Cutz, E.","year":"1984","unstructured":"Gillan JE, Lowden JA, Gaskin K, Cutz E. Congenital ascites as a presenting sign of lysosomal storage disease. Jf Pediatr 1984;104:225-31.","journal-title":"Jf Pediatr"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(82)80707-5","article-title":"Mucopolysaccharidosis VII (8-glucuronidase deficiency) presenting as nonimmune hydrops fetalis","volume":"101","author":"Nelson, A.; Peterson, L.; Frampton, B.; Sly, W.S.","year":"1982","unstructured":"Nelson A, Peterson L, Frampton B, Sly WS. Mucopolysaccharidosis VII (8-glucuronidase deficiency) presenting as nonimmune hydrops fetalis. J Pediatr 1982;101:574-6.","journal-title":"J Pediatr"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/ana.410140415","article-title":"Postmortem observations on fl-glucuronidase deficiency presenting as hydrops fetalis","volume":"14","author":"Irani, D.; Kim, H.-S.; El-Hibri, H.; Dutton, R.V.; Beaudet, A.; Armstrong, D.","year":"1983","unstructured":"Irani D, Kim H-S, El-Hibri H, Dutton RV, Beaudet A, Armstrong D. Postmortem observations on fl-glucuronidase deficiency presenting as hydrops fetalis. Ann Neurol 1983;14:486-90.","journal-title":"Ann Neurol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1001\/archpedi.1985.02140030059029","article-title":"fi glucuronidase deficiency. A heterogeneous mucopolysaccharidosis","volume":"139","author":"JE, Sheets Lee; RE, Falk; WG, Ng; GN, Donnell","year":"1985","unstructured":"Sheets Lee JE, Falk RE, Ng WG, Donnell GN. fi glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. Am J Dis Child 1985;139:57-9.","journal-title":"Am J Dis Child"},{"key":"ref_8","first-page":"135","article-title":"Neuraminidase deficiency presenting as non-immune hydrops fetalis","volume":"143","author":"Beck, M.; Bender, S.W.; Reiter, H.-L.","year":"1984","unstructured":"Beck M, Bender SW, Reiter H-L, et al. Neuraminidase deficiency presenting as non-immune hydrops fetalis. EurJPediatr 1984;143:135-9.","journal-title":"EurJPediatr"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"593","DOI":"10.3109\/15513818709161423","article-title":"Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy","volume":"7","author":"Applegarth, D.A.; Toone, JR, Wilson; RD, Yong; SL, Baldwin; V.J.","year":"1987","unstructured":"Applegarth DA, Toone JR, Wilson RD, Yong SL, Baldwin VJ. Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy. Pediatric Pathol 1987;7:593-9.","journal-title":"Pediatric Pathol"},{"key":"ref_10","first-page":"1005","article-title":"Nonimmune hydrops fetalis may be associated with an elevated AOD450 in the amniotic fluid","volume":"71","author":"Appleman, Z.; Blumberg, B.D.; Golabi, M.; Golbus, M.S.","year":"1988","unstructured":"Appleman Z, Blumberg BD, Golabi M, Golbus MS. Nonimmune hydrops fetalis may be associated with an elevated AOD450 in the amniotic fluid. Obstet Gynecol 1988;71: 1005-8.","journal-title":"Obstet Gynecol"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.46.4.370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T03:20:54Z","timestamp":1764991254000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.46.4.370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jcp.46.4.370"],"URL":"https:\/\/doi.org\/10.1136\/jcp.46.4.370","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"type":"print","value":"0021-9746"},{"type":"electronic","value":"1472-4146"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}