Concepedia

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

Natsuki Matsunoshita, Kandai Nozu, Akemi Shono, Yoshimi Nozu, Xue Jun Fu, Naoya Morisada, Naohiro Kamiyoshi, Hiromi Ohtsubo, Takeshi Ninchoji, Shogo Minamikawa,

Genetics in Medicine · 2015 · 92 citations · 28 references

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28

Revised Equations for Estimated GFR From Serum Creatinine in Japan

Seiichi Matsuo, Enyu Imai, Masaru Horio et al. · American Journal of Kidney Diseases · 2009 · 6.4K citations

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A Simple Estimate of Glomerular Filtration Rate in Children Derived From Body Length and Plasma Creatinine

George J. Schwartz, G B Haycock, Chester M. Edelmann et al. · PEDIATRICS · 1976 · 2.4K citations

, , +17

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

, , +17

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol Nelson‐Williams, Margaret J. Bia et al. · Nature Genetics · 1996 · 1.2K citations

, , +2

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

David B. Simon, Fiona E. Karet, Jahed M. Hamdan et al. · Nature Genetics · 1996 · 907 citations

, , +6