Results 41 to 50 of about 6,714 (210)
The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis
Case Reports in Nephrology and Dialysis, 2021 Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
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Journal of Medicine, 1970 Gitleman syndrome is a rare entity. It is a benign disorder that can present with many metabolic derangements. Here we report a patient presenting with recurrent episodes of muscle weakness, muscle cramps that was diagnosed as a cas of Gitlemans syndrome.
Minhaj Rahim Choudhury +2 more
openaire +2 more sources
Jurnal Kesehatan Andalas. 2019; 8(4) Gitelman Syndrome
Jurnal Kesehatan Andalas, 2020 Abstrak Gitelman syndrome (GS) adalah gangguan tubular ginjal bersifat autosom resesif yang ditandai dengan hipokalemia, alkalosis metabolik, hipomagnesemia dan hipokalsiuria.
Venni Dimitri, Drajat Priyono
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Nihon Jinzo Gakkai shi, 2011 We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman’s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was ...
C S, Quinlan +4 more
+7 more sources
Chondrocalcinosis and Gitelman syndrome [PDF]
QJM, 2016 A 37-year-old Polish lady presented left knee pain causing reduced mobility and time off work. She also complained of intermittent episodes of fatigue. Knee X-ray showed marked chondrocalcinosis (Figure 1). Serum electrolytes revealed a potassium level of 2.8 mmol/l and magnesium of 0.46 mmol/l and a hypochloraemic metabolic alkalosis.
Z, Iqbal, J A, Sayer
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Indian Journal of Human Genetics, 2006 Classic Bartter’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with normocalciuria or hypercalciuria, a severe disorder and Gitelman’s syndrome is primary renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder.
NithyanandaK Chowta, MuktaN Chowta
+4 more sources
, 2018 Type 1 diabetes is a chronic autoimmune disease characterised by insulin deficiency and resultant hyperglycaemia. Knowledge of type 1 diabetes has rapidly increased over the past 25 years, resulting in a broad understanding about many aspects of the ...
DiMeglio, Linda A. +2 more
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F1000Research, 2016 Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted
Zahra Iqbal, Paul Mead, John A. Sayer
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Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]
, 2010 Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter +21 more
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Distal Tubulopathy. Gitelman Syndrome
Педиатрическая фармакология, 2019 The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article.
Alexander A. Baranov +15 more
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