Results 111 to 120 of about 6,819 (177)

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

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

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

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

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

Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report. [PDF]

BMC Nephrol
Yan X, Gong W, Wei Z, Jin H, Wang H, Wang G.   +5 more
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

Genetic insights revealed ADRB1 as potential target for clear cell renal cell carcinoma. [PDF]

Front Pharmacol
Zhu H, Lin Q, Yu Z, Huang X.
europepmc   +1 more source

Case Report: Unusual electrolyte changes in primary hyperparathyroidism-a call to suspect underlying Gitelman syndrome. [PDF]

Front Endocrinol (Lausanne)
Shantha DWA, Waidyatilleke SR, Senevirathne KP, Dhanushkar R, Jayawickreme KP, Dassanayake BK, Dalugama C, Pathirage M.   +7 more
europepmc   +1 more source

Acute quadriparesis revealing Gitelman syndrome: a case report. [PDF]

Ann Med Surg (Lond)
Chandani HK, Ather A, Siddiqui E, Khan MS, Chandani DK, Mahmoud A.   +5 more
europepmc   +1 more source

Using human genetics to understand the effect of modulating targets of antihypertensive drugs in pregnancy [PDF]

medRxiv
Borges MC, Urquijo H, Yang Q, van der Graaf A, McBride N, Haug EB, Soares AG, Clayton GC, Bond TA, Al Arab M, Horn J, Thomas L, Bhatta L, Åsvold BO, Magnus MC, Evans DM, Burden C, Birchenall K, Brumpton B, Gaunt TR, Hart EC, Kutalik Z, Lawlor DA.   +22 more
europepmc   +2 more sources