{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:05:33Z","timestamp":1771603533125,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,8]],"date-time":"2006-07-08T00:00:00Z","timestamp":1152316800000},"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":[[2006,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Homozygosity for D409H has been associated with a unique type III subtype of the disease with a phenotype dominated by severe cardiovascular involvement, whereas neurological findings, if present, are restricted to oculomotor apraxia and features such as visceromegaly are either minimal or absent. Using PCR amplification followed by restriction enzyme analysis, 3 patients (1 Greek, 2 Albanians) were IDentified with the D409H\/D409H genotype. All shared a very severe early\u2010onset neurological phenotype that classified them as type II. Amplification and sequencing of the full coding region of the <jats:italic>GBA<\/jats:italic> gene revealed that all three patients were homozygous not only for D409H but also for H255Q. Both mutations were present on the same allele, as shown by analysis of the parental DNA. The double D409H+H255Q allele was found in heterozygosity in Greek, Bulgarian and Argentinian patients but was not IDentified in any Spanish patients carrying the D409H mutation.<\/jats:p>","DOI":"10.1007\/s10545-006-0316-x","type":"journal-article","created":{"date-parts":[[2006,7,8]],"date-time":"2006-07-08T09:12:49Z","timestamp":1152349969000},"page":"591-591","source":"Crossref","is-referenced-by-count":19,"title":["Homozygosity for the double D409H+H255Q allele in type II Gaucher disease"],"prefix":"10.1002","volume":"29","author":[{"given":"Helen","family":"Michelakakis","sequence":"first","affiliation":[{"name":"Department of Enzymology and Cellular Function Institute of Child Health Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Moraitou","sequence":"additional","affiliation":[{"name":"Department of Enzymology and Cellular Function Institute of Child Health Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evagelia","family":"Dimitriou","sequence":"additional","affiliation":[{"name":"Department of Enzymology and Cellular Function Institute of Child Health Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul","family":"Santamaria","sequence":"additional","affiliation":[{"name":"Department de Genetica, Facultat de Biologia Universitat de Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gessami","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department de Genetica, Facultat de Biologia Universitat de Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Institut de Bioquimica Clinica Corporacio Sanitaria Clinic Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amparo","family":"Chabas","sequence":"additional","affiliation":[{"name":"Institut de Bioquimica Clinica Corporacio Sanitaria Clinic Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Grinberg","sequence":"additional","affiliation":[{"name":"Department de Genetica, Facultat de Biologia Universitat de Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Dassopoulou","sequence":"additional","affiliation":[{"name":"NICU, \u201cAlexandra\u201d Hospital Athens, and \u201cAg. Sophia\u201d Children's Hospital Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spyros","family":"Fotopoulos","sequence":"additional","affiliation":[{"name":"Institut de Bioquimica Clinica Corporacio Sanitaria Clinic Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lluisa","family":"Vilageliu","sequence":"additional","affiliation":[{"name":"Department de Genetica, Facultat de Biologia Universitat de Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,8]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0316-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0316-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:54:10Z","timestamp":1694782450000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0316-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,8]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2006,8]]}},"alternative-id":["10.1007\/s10545-006-0316-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0316-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,8]]}}}