Results 111 to 120 of about 10,292,350 (166)

A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature

Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis.
Kalayci Yigin, Aysel, Seven, Mehmet, Koca, Oguzhan, Murt, Ahmet, Bavunoglu, Isil, Alay, Mustafa Tarık   +5 more
core   +1 more source

The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review. [PDF]

BMC Nephrol
Ma F, Wusiman R, Ma R, Wang X, Zhang K, Guo Y.   +5 more
europepmc   +1 more source

Novel nonsense mutation in the SLC12A3 gene in a Spanish case of Gitelman syndrome

Nefrología (English Edition), 2019
Lourdes Roca-Argente, Angel Zúñiga, Jose Luis Moll-Guillem, Julio Hernández-Jaras   +3 more
openaire   +1 more source

Mitochondrial dysfunction drives metabolic reprogramming in Gitelman syndrome: insights from proteomics and isogenic modeling. [PDF]

Hum Genet
Zhang H, Zhao W, Ma L, Yang X, Gao J, Liu X, Xie YG, Hu Y, Luo H, Han J.   +9 more
europepmc   +1 more source

Long-Standing Hypokalemia and Hypomagnesemia in a 61 Year-Old Woman: A Delayed Diagnosis of Gitelman Syndrome. [PDF]

Electrolyte Blood Press
Lee SY, Han SW, Lee J, Yu MY.
europepmc   +1 more source

A case analysis of Gitelman syndrome complicated with Sjögren's disease. [PDF]

Front Med (Lausanne)
Tang Y, Tian S, Xia C, Zhang Y, Dai Q.
europepmc   +1 more source

Constitutive YAP activation in distal nephron segments disrupts epithelial identity and nephron patterning. [PDF]

JCI Insight
Dehghani-Ghobadi Z, Chung E, Sayed M, Ahn C, Choi HA, Aamoum A, Thomson BR, Hu YC, Lim HW, Park JS.   +9 more
europepmc   +1 more source

Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review. [PDF]

Front Genet
Luo Y, Liao M, Lu W, Li M, Deng C, Zhou Y, Yang D, Yang F, Xu D.   +8 more
europepmc   +1 more source

Serum metabolic profiling analysis of Gitelman syndrome using untargeted metabolomics. [PDF]

Ren Fail
Han J, Ma L, Luo H.
europepmc   +1 more source

Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report. [PDF]

Front Endocrinol (Lausanne)
Zhang R, Zhang Y, Nie Y, Bai Y, Shu J, Liu Y.   +5 more
europepmc   +1 more source