Diagnostic strategy for inherited hypomagnesemia.

Horinouchi, Tomoko; Nozu, Kandai; Kamiyoshi, Naohiro; Kamei, Koichi; Togawa, Hiroko; Shima, Yuko; Urahama, Yoshimichi; Yamamura, Tomohiko; Minamikawa, Shogo; Nakanishi, Keita; Fujimura, Junya; Morioka, Ichiro; Ninchoji, Takeshi; Kaito, Hiroshi; Nakanishi, Koichi; Iijima, Kazumoto

doi:10.1007/s10157-017-1396-7

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Diagnostic strategy for inherited hypomagnesemia.

Author(s): Tomoko Horinouchi, Kandai Nozu, Naohiro Kamiyoshi, Koichi Kamei, Hiroko Togawa, Yuko Shima, Yoshimichi Urahama, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Junya Fujimura, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Kazumoto Iijima

Publication date: 2017-12-01

Journal: Clinical and Experimental Nephrology

Publisher: Springer Science and Business Media LLC

Keywords: Diagnostic flowchart, Next-generation sequencing, Hereditary hypomagnesemia

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Abstract

Hereditary hypomagnesemia is difficult to diagnose accurately because of its rarity and the variety of causative genes. We established a flowchart for identifying responsible genes for hypomagnesemia, and we confirmed its diagnostic efficacy in patients with suspected inherited hypomagnesemia.