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Proteinuria in a male adolescent with hearing loss: Answers.

作者信息

Kaya Aksoy Gülşah, Çomak Elif, Akkaya Bahar, Koyun Mustafa, Akman Sema

机构信息

Department of Pediatric Nephrology, Faculty of Medicine, Akdeniz University, 07070, Antalya, Turkey.

Department of Pathology, Faculty of Medicine, Akdeniz University, 07070, Antalya, Turkey.

出版信息

Pediatr Nephrol. 2018 Jul;33(7):1161-1163. doi: 10.1007/s00467-017-3825-y. Epub 2017 Nov 2.

DOI:10.1007/s00467-017-3825-y
PMID:29098401
Abstract
摘要

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Proteinuria in a male adolescent with hearing loss: Answers.一名患有听力损失的男性青少年的蛋白尿：答案
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2
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[Fabry disease--diagnostic guideline].
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本文引用的文献

1
Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.法布里病患者的酶替代疗法长期治疗
Nephron. 2016;134(1):30-6. doi: 10.1159/000448968. Epub 2016 Aug 27.
2
Is it Fabry disease?这是法布里病吗？
Genet Med. 2016 Dec;18(12):1181-1185. doi: 10.1038/gim.2016.55. Epub 2016 May 19.
3
Paediatric Fabry disease.儿童期法布里病。
Transl Pediatr. 2016 Jan;5(1):37-42. doi: 10.3978/j.issn.2224-4336.2015.12.02.
4
The management and treatment of children with Fabry disease: A United States-based perspective.法布里病患儿的管理与治疗：基于美国的视角
Mol Genet Metab. 2016 Feb;117(2):104-13. doi: 10.1016/j.ymgme.2015.10.007. Epub 2015 Oct 23.
5
Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?法布瑞氏肾病：综述——我们如何优化法布瑞氏肾病的管理？
BMC Nephrol. 2014 May 6;15:72. doi: 10.1186/1471-2369-15-72.
6
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.法布里肾病：欧洲肾脏最佳实践的筛查指征及诊断和治疗指南。
Nephrol Dial Transplant. 2013 Mar;28(3):505-17. doi: 10.1093/ndt/gfs526. Epub 2012 Dec 12.
7
Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique.在安德森-法布里病中进行靶向尿液显微镜检查：一种廉价、敏感且特异的诊断技术。
Nephrol Dial Transplant. 2011 Oct;26(10):3195-202. doi: 10.1093/ndt/gfr084. Epub 2011 Mar 7.
8
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.迈向法布里病实验室诊断的共识——欧洲专家组的建议
J Inherit Metab Dis. 2011 Apr;34(2):509-14. doi: 10.1007/s10545-010-9261-9. Epub 2011 Jan 13.
9
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.尿总半乳糖基神经酰胺及其同工型鉴定法布里病女性患者：一项诊断性试验研究。
Am J Kidney Dis. 2011 May;57(5):673-81. doi: 10.1053/j.ajkd.2010.10.046. Epub 2010 Dec 24.
10
Fabry disease.法布里病。
Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30.