{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T04:57:58Z","timestamp":1694840278742},"reference-count":20,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,2,16]],"date-time":"2010-02-16T00:00:00Z","timestamp":1266278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["PGIDIT06PXIB905328PR","INCITE07PXI905221ES"],"award-info":[{"award-number":["PGIDIT06PXIB905328PR","INCITE07PXI905221ES"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the only affected foetus, glycogen storage was observed in fibrocytes and endothelial cells of a chorionic villi sample at 11 week's gestation. Severe multi\u2010organ involvement was demonstrated in the tissues of the aborted foetus. No abnormal material was found in the chorionic samples of two subsequent pregnancies, and a healthy boy and girl were born at term and remain unaffected. Both exhibited a partial reduction in acid maltase and were carriers of the maternal mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Ultrastructural findings correlated with biochemical and genetic results, providing a clear and early indicator of the definite diagnosis for future pregnancy management or an early therapeutic approach.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-009-9033-6","type":"journal-article","created":{"date-parts":[[2010,2,15]],"date-time":"2010-02-15T16:58:15Z","timestamp":1266253095000},"page":"105-111","source":"Crossref","is-referenced-by-count":3,"title":["Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II"],"prefix":"10.1002","volume":"33","author":[{"given":"Beatriz","family":"San Millan","sequence":"first","affiliation":[{"name":"Department of Pathology and Neuropathology University Hospital of Vigo, Meixoeiro Vigo 36200 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Teijeira","sequence":"additional","affiliation":[{"name":"Department of Pathology and Neuropathology University Hospital of Vigo, Meixoeiro Vigo 36200 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Biology Research Center Hospital Universitari Vall d'Hebron, Centre for Biomedical Research on Rare Diseases (CIBERER) Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Vieitez","sequence":"additional","affiliation":[{"name":"Department of Pathology and Neuropathology University Hospital of Vigo, Meixoeiro Vigo 36200 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Navarro","sequence":"additional","affiliation":[{"name":"Department of Pathology and Neuropathology University Hospital of Vigo, Meixoeiro Vigo 36200 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,2,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31818da91e"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(85)90551-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00247-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120601169469"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20482"},{"key":"e_1_2_6_7_1","first-page":"3389","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199101313240517"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2008.01.005"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-1281(76)80099-2"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_6_13_1","first-page":"639","article-title":"Skin biopsy in the diagnosis of metabolic encephalopathies","volume":"132","author":"Martin JJ","year":"1976","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.07.006"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490510048002"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970120305"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-004-0620-3"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2004.09.017"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90041-1"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.2.332"},{"key":"e_1_2_6_21_1","first-page":"179","article-title":"Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha\u2010glucosidase activity","volume":"45","author":"Wierzba\u2010Bobrowicz T","year":"2007","journal-title":"Folia Neuropathol"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9033-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:24:00Z","timestamp":1694759040000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9033-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,16]]},"references-count":20,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-009-9033-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9033-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,16]]}}}