Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency

Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept,...

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Bibliografiske detaljer
Udgivet i:CEN Case Rep
Main Authors: Umene, Ryusuke, Kitamura, Mineaki, Arai, Hideyuki, Matsumura, Kazuki, Ishimaru, Yuka, Maeda, Kanenori, Uramatsu, Tadashi, Obata, Yoko, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Nishino, Tomoya
Format: Artigo
Sprog:Inglês
Udgivet: Springer Singapore 2020
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7502106/
https://ncbi.nlm.nih.gov/pubmed/32506365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00489-3
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