{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:34:07Z","timestamp":1760146447121},"reference-count":3,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1997,8,1]],"date-time":"1997-08-01T00:00:00Z","timestamp":870393600000},"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":[[1997,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A novel mutation, C118t, in exon 2 of the acid \u03b1\u2010glucosidase gene has been found in an infant with glycogen storage disease type II. This mutation is predicted to result in protein truncation. The phenotype was that of the severe infantile form of the disorder with lack of motor development, but with eye regard, social smile and vocalization. The parents were heterozygous for C118T and belong to an Islamic community opposed to termination of pregnancy. As the C118T mutation results in the loss of one of two AvaI sites present in an informative PCR product, reliable premarriage carrier detection became possible and was acceptable to the members of this extended family.<\/jats:p>","DOI":"10.1023\/a:1005394706622","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"556-558","source":"Crossref","is-referenced-by-count":13,"title":["A novel acid \u03b1\u2010glucosidase mutation identified in a Pakistani family with glycogen storage disease type II"],"prefix":"10.1002","volume":"20","author":[{"given":"M. A.","family":"Kroos","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus University  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. E.","family":"Waitfield","sequence":"additional","affiliation":[{"name":"Division of Genetics and Chemical Pathology Institute of Child Health  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Joosse","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus University  Rotterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Winchester","sequence":"additional","affiliation":[{"name":"Division of Genetics and Chemical Pathology Institute of Child Health  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J. J.","family":"Reuser","sequence":"additional","affiliation":[{"name":"Division of Genetics and Chemical Pathology Institute of Child Health  London"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. D.","family":"MacDermot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Royal Free Hospital School of Medicine  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1997,8]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"2443","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hirschhorn R","year":"1995"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1081"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)39477-2"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005394706622","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005394706622","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:30:48Z","timestamp":1694752248000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005394706622"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":3,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1997,8]]}},"alternative-id":["10.1023\/A:1005394706622"],"URL":"https:\/\/doi.org\/10.1023\/a:1005394706622","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}