Results 81 to 90 of about 13,710 (218)
Bilateral Global Nephrocalcinosis in a Uremic Puppy
Veterinary SciencesThis study explores kidney disease in young dogs, focusing on early diagnosis, management, and the importance of staging for effective treatment. Highlighting mineral metabolism imbalances and complications such as nephrocalcinosis, the study presents a ...
Maria Rizzo +6 more
doaj +1 more source
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene [PDF]
, 2011 A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene.
Lam, CW, Tong, CT, Tong, SF, Wong, WC
core
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
, 2016 Background: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (
Andreoletti, Gaia +6 more
core +1 more source
Síndrome de Bartter: evaluación del desarrollo estatural y perfil metabólico [PDF]
, 2011 OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome.
Andrade, Maria Cristina de +4 more
core +3 more sources
Proceedings of the Royal Society of Medicine, 1963 A R, HARRISON, R R, GHOSE
openaire +2 more sources
Changing pattern of primary hyperoxaluria in Switzerland [PDF]
, 2017 Background The clinical course of primary hyperoxaluria (PH) is greatly variable and diagnosis is often delayed. Little is known about the overall occurrence and current prognosis.
Kopp, N., Leumann, E.
core
Frontiers in Immunology, 2018 Crystallopathies are a heterogeneous group of diseases caused by intrinsic or environmental microparticles or crystals, promoting tissue inflammation and scarring.
Stefanie Steiger +8 more
doaj +1 more source
CHRONIC RENAL FAILURE DUE TO FAMILIAL HYPOMAGNESEMIC HYPERCALCIURIA (A CASE REPORT)
Turkish Journal of Nephrology, 2019 Familial Hypomagnesemia- hypercalciuria is a hereditary disease of unknown etiology characterized by persistant Hypomagnesemia, incomplete distal tubuler acidosis, hypercalciuria and nephrocalcinosis.
Ali Rıza ODABAŞ +4 more
doaj
Nephrocalcinosis – latest reports on risk factors
Pediatria PolskaThis review synthesises recent discoveries in the risk factors of nephrocalcinosis, with a particular focus on novel findings. Nephrocalcinosis, characterised by the deposition of calcium salts in the renal parenchyma, is linked to a variety of genetic ...
Tomasz Dudzik +5 more
doaj +1 more source
Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report
The Pan African Medical Journal, 2015 Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal ...
Kamel Abidi +4 more
doaj +1 more source