Literature DB >> 18195703

Diagnosing Alport syndrome using electron microscopy of the skin.

A Kuroki, J Ito, A Yokochi, N Kato, T Sugisaki, H Sueki, T Akizawa.   

Abstract

Mesh：

Year:  2008        PMID： 18195703     DOI： 10.1038/sj.ki.5002682

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  4 in total

1.  Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

Authors:  Andrew F Malone; Steven D Funk; Tarek Alhamad; Jeffrey H Miner
Journal:  Pediatr Nephrol       Date:  2016-12-24       Impact factor: 3.714

2.  Alport syndrome: a rare cause of uraemia.

Authors:  Soumik Ghosh; Manavdeep Singh; Ratnakar Sahoo; Sachin Rao
Journal:  BMJ Case Rep       Date:  2014-02-13

3.  The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.

Authors:  Dongmao Wang; Mardhiah Mohammad; Yanyan Wang; Rachel Tan; Lydia S Murray; Sharon Ricardo; Hayat Dagher; Tom van Agtmael; Judy Savige
Journal:  Kidney Int Rep       Date:  2017-03-27

4.  Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.

Authors:  Xiao-Dan Yao; Xin Chen; Gao-Yuan Huang; Yan-Ting Yu; Shu-Tian Xu; Yang-Lin Hu; Qing-Wen Wang; Hui-Ping Chen; Cai-Hong Zeng; Da-Xi Ji; Wei-Xin Hu; Zheng Tang; Zhi-Hong Liu
Journal:  Orphanet J Rare Dis       Date:  2012-12-21       Impact factor: 4.123
  4 in total

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