Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes [PDF]
, 2015 Extracellular calcium participates in several key physiological functions, such as control of blood coagulation, bone calcification or muscle contraction.
Bonny, Olivier, Bochud, Murielle
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The Diagnosis Algorithm of Chronic Hypokalemia in Bartter Syndrome and Gitelman Syndrome: A Case Report [PDF]
, 2021 Introduction: Hypokalemia is common disorder characterized by low plasma potassium levels (<3.5 mEq / L). Hypokalemia can be caused by genetic disorders.
Fajri, Ro'di Nur +2 more
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The Concise Guide to PHARMACOLOGY 2025/26: G protein‐coupled receptors
British Journal of Pharmacology, Volume 182, Issue S1, Page S24-S151, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +206 more
wiley +1 more source
Application of Genetic Testing for Anorexia Nervosa: An Ethical Analysis
Brain and Behavior, Volume 15, Issue 3, March 2025.Predictive and prescriptive genetic testing for complex disorders, including anorexia nervosa, has tremendous potential but is still primarily research‐based. We performed an ethical analysis of the use of genetic testing in the treatment of anorexia nervosa. Based on this analysis we propose that for those presenting with atypical anorexia nervosa and
Sarah Ramsay +4 more
wiley +1 more source
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders [PDF]
, 2021 Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure.
Ariceta, G +13 more
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Severe lung disease in children with cystic fibrosis missed in newborn screening
Pediatric Pulmonology, Volume 59, Issue 1, Page 163-168, January 2024.Abstract Background Cystic fibrosis (CF) is now routinely diagnosed through newborn screening (NBS), but the tests employed in the USA have been evolving for two decades as missed cases become recognized and lab methods improve in association with more knowledge about CF genetics.
Kathrine Baldwin +5 more
wiley +1 more source
The Journal of Pediatric Academy, 2021 Cystic fibrosis (CF) is a chronic disease with autosomal recessive inheritance, chlorine duct defect, and multisystemic involvement. In this study, we evaluated the problems of our adolescent and adult patients with CF who were followed up in our unit to
Aslı İmran Yılmaz +5 more
doaj
Genetic Variants Affecting Lipid and Glucose Metabolism in Obese Pediatric Population [PDF]
, 2011 6
Horvatovich Katalin
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A Case of Pseudo-Bartter Syndrome with Severe Metabolic Alkalosis
Turkish Journal of Nephrology, 2019 INTRODUCTION: The Pseudo-Bartter Syndrome, unlike the Bartter and Gitelman Syndromes, is characterized with metabolic alkalosis without a tubular defect.
Meltem GÜRSU +4 more
doaj
Role of the Apolipoprotein A5 Gene's Natural Polimorphysms in the Development of Metabolic Syndrome [PDF]
, 2012 6
Kisfali Péter
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