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   Articles with "hypercalciuria nephrocalcinosis" as a keyword



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Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

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recommendations! Published in 2019 at "Gene"

DOI: 10.1016/j.gene.2018.12.024

Abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal-recessive renal tubular disorder characterized by excessive urinary losses of magnesium and calcium, bilateral nephrocalcinosis and progressive chronic renal failure in childhood or adolescence. The disease is… read more here.

Keywords: mutation; nephrocalcinosis; hypomagnesemia hypercalciuria; hypercalciuria nephrocalcinosis ... See more keywords
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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

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recommendations! Published in 2018 at "BMC Medical Genetics"

DOI: 10.1186/s12881-018-0713-7

Abstract: BackgroundFamilial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and progressive chronic renal failure. This rare disease is caused by mutations… read more here.

Keywords: exonic cldn16; nephrocalcinosis; cldn16 mutations; hypercalciuria nephrocalcinosis ... See more keywords
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An Uncommon Cause of Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a Young Woman

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recommendations! Published in 2021 at "Journal of the Endocrine Society"

DOI: 10.1210/jendso/bvab048.366

Abstract: Abstract Background: Mutations of the calcium-sensing receptor (CaSR) gene resolve in a change of calcium homeostasis with autosomal dominant and/or sporadic hypocalcemia with hypercalciuria (ADH) (gain-of-function) and familial hypocalciuric hypercalcemia (loss-of-function-mutation). Additionally, genetic mutations in… read more here.

Keywords: gene; hypomagnesemia; hypercalciuria nephrocalcinosis; hypomagnesemia hypercalciuria ... See more keywords