共查询到20条相似文献,搜索用时 15 毫秒
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Mahmoud I. Abdel-Aziz Paul Brinkman Susanne J.H. Vijverberg Anne H. Neerincx John H. Riley Stewart Bates Simone Hashimoto Nazanin Zounemat Kermani Kian Fan Chung Ratko Djukanovic Sven-Erik Dahlén Ian M. Adcock Peter H. Howarth Peter J. Sterk Aletta D. Kraneveld Anke H. Maitland-van der Zee 《The Journal of allergy and clinical immunology》2021,147(1):123-134
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Kelly Bruton Paul Spill Shabana Vohra Owen Baribeau Saba Manzoor Siyon Gadkar Malcolm Davidson Tina D. Walker Joshua F.E. Koenig Yosef Ellenbogen Alexandra Florescu Jianping Wen Derek K. Chu Susan Waserman Rodrigo Jiménez-Saiz Slava Epelman Clinton Robbins Manel Jordana 《The Journal of allergy and clinical immunology》2021,147(4):1381-1392
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Theo Crosson Jo-Chiao Wang Benjamin Doyle Hannah Merrison Mohammad Balood Alexandre Parrin Maud Pascal Barbara C. Mindt Corey R. Seehus Alp Ozcan Xuan Huang Elise Semenara Nicole Y.Y. Lai Abdelilah Majdoubi Raja-Elie E. Abdulnour Trevor Rajchgot Moutih Rafei Simmie L. Foster Sebastien Talbot 《The Journal of allergy and clinical immunology》2021,147(6):2330-2342
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Briana N. James Clement Oyeniran Jamie L. Sturgill Jason Newton Rebecca K. Martin Erhard Bieberich Cynthia Weigel Melissa A. Maczis Elisa N.D. Palladino Joseph C. Lownik John B. Trudeau Joan M. Cook-Mills Sally Wenzel Sheldon Milstien Sarah Spiegel 《The Journal of allergy and clinical immunology》2021,147(5):1936-1948.e9
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ZhengWang Sun Ji Hye Kim Seo Hyeong Kim Hye Ran Kim KeLun Zhang Youdong Pan Min Kyung Ko Bo Mi Kim Howard Chu Hee Ra Lee Hye Li Kim Ji Hyung Kim Xiujun Fu Young-Min Hyun Ki Na Yun Jin Young Kim Dong Won Lee Seung Yong Song Chang Ook Park 《The Journal of allergy and clinical immunology》2021,147(5):1764-1777
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《European journal of medical genetics》2020,63(2):103645
Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, and intellectual disability due to deficiency of the lysosome-associated membrane protein-2 (LAMP-2). Although heart transplantation is considered an option for end stage Danon cardiomyopathy, scarce information is available about long term follow up. We report on long term follow up (14.7 years, IQ range 9–21 years) of 4 patients, transplanted for Danon disease cardiomyopathy, showing two LAMP-2 gene variants, the novel c.815T > C and the previously reported c.294G > A. We have also analysed previous published paper on this topic comparing available data from different follow up. Being a skeletal and cardiac muscle disease, with systemic effects, long term results about HTx are indispensable to justify any treatments in this subset of patients. 相似文献
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