Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

David Ribes; Dominique Chauveau; Ivan Tack; Lionel Rostaing; Olivier Cointault; Pascal Cintas; Rosa Vargas-Poussou; Stanislas Faguer

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Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

机译：CLDN19突变患者的肾脏，眼和神经肌肉活动

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Background and objectives The objective of this study was to describe the renal and extrarenal findings in patients with recessively inherited familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) associated with CLDN19 mutations.

机译：背景与目的本研究的目的是描述伴有CLDN19突变的隐性遗传性家族性低镁血症伴高钙尿和肾钙化病（FHHNC）的患者的肾脏和肾外表现。

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《Clinical journal of the American Society of Nephrology: CJASN》 |2011年第2期|共页
作者
David Ribes; Dominique Chauveau; Ivan Tack; Lionel Rostaing; Olivier Cointault; Pascal Cintas; Rosa Vargas-Poussou; Stanislas Faguer;
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中图分类泌尿科学（泌尿生殖系疾病）;
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1. Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations [J] . FaguerS., ChauveauD., CintasP., Clinical journal of the American Society of Nephrology: CJASN . 2011,第2期

机译：CLDN19突变患者的肾，眼和神经肌肉受累
2. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement [J] . Konrad M, Schaller A, Seelow D, The American Journal of Human Genetics . 2006,第5期

机译：紧密连接基因claudin 19（CLDN19）的突变与肾镁消耗，肾衰竭和严重的眼部受累有关
3. Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease. [J] . Naeem M, Hussain S, Akhtar N American Journal of Nephrology . 2011,第3期

机译：紧密连接基因claudin 19（CLDN19）突变和家族性低镁血症，高钙尿症，肾钙化病（FHHNC）和严重眼病。
4. WISION- Wireless Interface System for Interpretation of Ocular Symbols from People with Neuromuscular Diseases [C] . Ramesh Maneesha V., Asok Nair Aswathy, Menon K. A. Unnikrishna The 7th International Conference on Wireless Communications, Networking and Mobile Computing . 2011

机译：WISION-无线接口系统，用于解释神经肌肉疾病患者的眼部符号
5. In situ detection of transrenal gene mutations without DNA isolation and amplification using Array Piezoelectric Plate Sensor (PEPS) [D] . Kirimli, Ceyhun E. 2013

机译：使用阵列压电板传感器（PEPS）无需DNA分离和扩增即可原位检测跨肾基因突变
6. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting Renal Failure and Severe Ocular Involvement [O] . Martin Konrad, André Schaller, Dominik Seelow, 2006

机译：紧密连接基因克劳丁19（CLDN19）中的突变与肾脏镁的浪费肾衰竭和严重的眼球受累有关
7. Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations [O] . Faguer, Stanislas, Chauveau, Dominique, Cintas, Pascal, 2010

机译：CLDN19突变患者的肾脏，眼和神经肌肉活动

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

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