Frank Weidemann, Markus Niemann, Claudia Sommer, Meinrad Beer, Frank Breunig, Christoph Wanner
{"title":"[女性法布里氏病——一个跨学科的诊断和治疗挑战]。","authors":"Frank Weidemann, Markus Niemann, Claudia Sommer, Meinrad Beer, Frank Breunig, Christoph Wanner","doi":"10.1007/s00063-010-1102-y","DOIUrl":null,"url":null,"abstract":"<p><p>Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.</p>","PeriodicalId":18420,"journal":{"name":"Medizinische Klinik","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2010-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00063-010-1102-y","citationCount":"1","resultStr":"{\"title\":\"[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].\",\"authors\":\"Frank Weidemann, Markus Niemann, Claudia Sommer, Meinrad Beer, Frank Breunig, Christoph Wanner\",\"doi\":\"10.1007/s00063-010-1102-y\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.</p>\",\"PeriodicalId\":18420,\"journal\":{\"name\":\"Medizinische Klinik\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/s00063-010-1102-y\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medizinische Klinik\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00063-010-1102-y\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2010/9/28 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Klinik","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00063-010-1102-y","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2010/9/28 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].
Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically review the typical organ involvement in female Fabry patients. Moreover, therapy recommendations especially for female patients are discussed.
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