Clinical utility gene card for: cystinosis.
作者信息
Levtchenko Elena, van den Heuvel Lambertus, Emma Francesco, Antignac Corinne
机构信息
Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
1] Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium [2] Department of Pediatric Nephrology, Radboud University Nijmegen, Nijmegen, The Netherlands.
出版信息
Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.204. Epub 2013 Sep 18.
Abstract
摘要
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The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.伊朗西南部患有肾性胱氨酸贮积症个体的首次分子遗传学分析。
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Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.
6
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.胱氨酸病患者血斑中 sedoheptulose 浓度升高：对诊断和新生儿筛查的影响。
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Long-term outcome of nephropathic cystinosis: a 20-year single-center experience.胱氨酸病的长期预后：20 年单中心经验。
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Cystinosis: practical tools for diagnosis and treatment.胱氨酸病：诊断与治疗实用工具。
Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24.
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In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.肾病性胱氨酸病患者角膜的体内共聚焦显微镜检查和眼前节光学相干断层扫描分析
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