{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:57:01Z","timestamp":1759481821891},"reference-count":4,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2003,2,1]],"date-time":"2003-02-01T00:00:00Z","timestamp":1044057600000},"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":[[2003,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Summary<\/jats:bold>: A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non\u2010obstructive cardiomyopathy) at around 30 years of age. His leukocyte \u03b1\u2010galactosidase activity (\u03b1\u2010gal) was 2.6% of controls. A 50\u2010year\u2010old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity.<\/jats:p><jats:p>All three patients carried a novel, 6bp insertion on exon 7 of the <jats:italic>AGAL<\/jats:italic> gene. The majority of male Fabry patients carrying mutations in exon 7 have residual \u03b1\u2010gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset.<\/jats:p><jats:p>The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.<\/jats:p>","DOI":"10.1023\/a:1022833332162","type":"journal-article","created":{"date-parts":[[2003,4,4]],"date-time":"2003-04-04T21:57:10Z","timestamp":1049493430000},"page":"695-696","source":"Crossref","is-referenced-by-count":3,"title":["A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease"],"prefix":"10.1002","volume":"25","author":[{"given":"Th.","family":"Kroepfl","sequence":"first","affiliation":[{"name":"Department of Paediatrics The University of Graz  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Paul","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The University of Graz  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kotanko","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hospital Barmherzige Brueder  Graz Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Plecko","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The University of Graz  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Paschke","sequence":"additional","affiliation":[{"name":"Department of Paediatrics The University of Graz  Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600107.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000060194"},{"issue":"2","key":"e_1_2_1_4_1","first-page":"150","article-title":"An intermediate phenotype of Fabry disease","volume":"24","author":"Germain DP","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_5_1","first-page":"289","article-title":"Point mutation in the alpha\u2010galactosidase A gene of atypical Fabry disease with only nephropathy","volume":"45","author":"Sawada K","year":"1996","journal-title":"Clin Nephrol"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1022833332162","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1022833332162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:03:17Z","timestamp":1694757797000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1022833332162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,2]]},"references-count":4,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["10.1023\/A:1022833332162"],"URL":"https:\/\/doi.org\/10.1023\/a:1022833332162","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,2]]}}}