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Genetic nephropathy and uropathy
, and genetic nephrotic syndrome. Genetic tubulopathies include Bartter and GitelmannThere are several hundred genes associated with nephrologic diseases. Genetic renal diseases can be divided into two groups, glom...
Paediatrics
- 2021 •
- C
Rok uplatnění
C - Kapitola v odborné knize
Bartter and Gitelman syndromes
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disor-ders. Early identification of tubulopathies is essential for appropriate management. Progress in...
Clinical medicine
- 2022 •
- JSC •
- Link
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Bartter and Gitelman syndromes
Bartter's and Gitelman's syndromes are tubulopathies associated with salt loss. These rare diseases may be associated with the development of severe electrolyte abnormalities. Advances in molecular genetics have allowed th...
Paediatrics
- 2024 •
- Jost •
- Link
Rok uplatnění
Jost - Ostatní články v recenzovaných periodicích
Výsledek na webu
Bartter syndrome in children: a series of eight cases from Czech Republic and Slovakia
Bartter syndrome includes a group of rare genetically determined tubulopathies accompanied by increased urinary salt losses. The pathogenetic basis is a disorder of transport systems responsible for the reabsorption of salts, primar...
Paediatrics
- 2024 •
- JSC •
- Link
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Bartter syndrome in children: a series of eight cases from the Czech Republic and Slovakia
Bartter syndrome includes a group of rare genetically determined tubulopathies accompanied by increased urinary salt losses. The pathogenetic basis is a disorder of transport systems responsible for the reabsorption of salts, primar...
Paediatrics
- 2024 •
- JSC •
- Link
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Gitelman´s syndrome
The authors are prefered a case about Gitelmans syndrome. They are described diagnosis and treatment of this type of hereditary tubulopathy.
FD - Onkologie a hematologie
- 2006 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Gitelman syndrome
Gitelman syndrome is rare congenital renal tubulopathy. As a review authors present up to date informations about this disease.
Paediatrics
- 2021 •
- Jost •
- Link
Rok uplatnění
Jost - Ostatní články v recenzovaných periodicích
Výsledek na webu
Genetically conditioned nephropathies and uropathies
genetics, highlighted by the sequencing of the human genome. This has not only provided the identification of gene mutations that underlie genetic diseases in human subjects. This interaction between physiology and genetics
FG - Pediatrie
- 2015 •
- C
Rok uplatnění
C - Kapitola v odborné knize
Bartter syndrome - clinical genetic analysis
Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemie metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Two segments along the distal nephron are primarily involved in the pa...
FG - Pediatrie
- 2015 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes - Summary of Mutation Screening
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and C...
EB - Genetika a molekulární biologie
- 2011 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
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