Results 121 to 130 of about 1,116 (166)
Brazilian Guidelines on evaluation and clinical management of Nephrolithiasis: Brazilian Society of Nephrology. [PDF]
Carvalho M +10 more
europepmc +1 more source
Dual Diagnostic Dilemma: Gitelman Syndrome and Incidental Neuroendocrine Tumor in a Young Adult With Refractory Hypokalemia. [PDF]
Gapizov A +5 more
europepmc +1 more source
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Journal of Nephrology, 2010
Abstract In the last thirty decade, with the emergence of new trends in molecular biology and advances in high throughput technologies, much progress has been made in basic renal physiology. Molecular genetics has allowed the identification and elucidation of the structure, function and effects of the mutations of sev eral of the main
Giovambattista Capasso
exaly +4 more sources
Abstract In the last thirty decade, with the emergence of new trends in molecular biology and advances in high throughput technologies, much progress has been made in basic renal physiology. Molecular genetics has allowed the identification and elucidation of the structure, function and effects of the mutations of sev eral of the main
Giovambattista Capasso
exaly +4 more sources
Inherited Renal Tubulopathies—Challenges and Controversies [PDF]
Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism.
Daniela Iancu, Emma Ashton
exaly +3 more sources
Hypouricemia Related to a Hypersecretional Tubulopathy
Nephron, 2008We present 1 patient with hypouricemia and hyperuricosuria. Serum uric acid level ranged between 1.5 and 1.9 mg/dl and uric acid fractional excretion between 20 and 28%. Apart from that the renal function was normal. The pyrazinamide suppression test gave a normal response showing nearly complete suppression of urate excretion.
Dumont, Isabelle, Decaux, Guy
openaire +3 more sources
Failure to Thrive in Children With Tubulopathies
Pediatric NephrologyFailure to thrive (FTT) is a common clinical concern in pediatric patients with tubulopathies. Defective tubular handling of solutes, electrolytes, and acid-base balance contributes to impaired growth through both renal and systemic mechanisms.
Detlef Bockenhauer +2 more
exaly +3 more sources
Mitochondrial Dysfunction in Kidney Tubulopathies [PDF]
Mitochondria play a key role in kidney physiology and pathology. They produce ATP to fuel energy-demanding water and solute reabsorption processes along the nephron. Moreover, mitochondria contribute to cellular health by the regulation of autophagy, (oxidative) stress responses, and apoptosis.
Jeroen H F de Baaij
exaly +3 more sources

