Results 81 to 90 of about 6,714 (210)

Les WNK kinases et les effets de WNK3 sur l'activité du canal ENaC [PDF]

open access: yes, 2014
Les WNK kinases sont une famille de sérine/thréonine protéines kinases, des enzymes capables de phosphoryler le résidu OH de sérine ou thréonine. Quatre membres (WNK 1-4) ont été identifiés, largement distribués dans les cellules et tissus des ...
BATTIG, F.
core  

Gitelman Syndrome [PDF]

open access: yesHypertension, 2009
Mattias, Roser   +8 more
openaire   +3 more sources

Primary renal potassium wasting syndrome in a juvenile domestic medium‐hair cat secondary to an atypical distal renal tubular disorder of undetermined molecular origin

open access: yesVeterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr.   +2 more
wiley   +1 more source

Living with Gitelman disease: an insight into patients' daily experiences [PDF]

open access: yes, 2017
Background Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms.
Bettinelli, Alberto   +5 more
core  

A successful pregnancy for a young hypothyroid woman with Gitelman Syndrome: A rare case study report

open access: yesCaspian Journal of Reproductive Medicine, 2016
It is widely assumed that Gitelman syndrome is a rare genetic disorder with such electrolyte imbalance as hypokalemia and hypomagnesaemia. The impact of hypothyroidism on Gitelman syndrome and its management is not clear.
Zahra Kashi, Adele Bahar, Ozra Akha
doaj  

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association

open access: yesCase Reports in Pediatrics, 2021
Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra   +6 more
doaj   +1 more source

Parvalbumin: calcium and magnesium buffering in the distal nephron [PDF]

open access: yes, 2017
Parvalbumin (PV) is a classical member of the EF-hand protein superfamily that has been described as a Ca2+ buffer and Ca2+ transporter/shuttle protein and may also play an additional role in Mg2+ handling.
Devuyst, Olivier   +4 more
core  

The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]

open access: yes, 2017
Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna   +2 more
core   +1 more source

A Rare Cause of Gitelman Syndrome: Celiac Disease: An Interesting Case

open access: yesTurkish Journal of Nephrology, 2019
Gitelman syndrome is an autosomal recessive tubulopathy that is characterized by metabolic alkalosis, hypomagnesemia, hypocalciuria, secondary hyperreninemic hyperaldosteronism and low blood pressure.
Simge BARDAK   +6 more
doaj  

An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant

open access: yesClinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.
Karim Hassan   +5 more
wiley   +1 more source

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