Back to search

Article

Seven pediatric Cases with Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

2022-06-08

Abstract excerpt

<h4>Purpose: </h4> Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal-recessive renal tubular disorder. FHHNC is characterized by renal wasting of magnesium (Mg) and calcium (Ca), which subsequently leads to bilateral nephrocalcinosis, renal stones, and chronic renal failure. Here, we report seven patients with FHHNC. <h4>Methods: </h4>: We retrospectively analyzed pediatr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
a45ca92c-bd31-5cfd-ae34-7a4dd9bf0440
DOI
10.21203/rs.3.rs-1719871/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Seven pediatric Cases with Familial hypomagnesemia with hypercalciuria and nephrocalcinosisDOI 10.21203/rs.3.rs-1719871/v1
A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings.Semantic proximity
Inherited forms of renal hypomagnesemia: an updateSemantic proximity
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.Semantic proximity
Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.Semantic proximity
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Caused by CLDN16/CLDN19 Mutations in Four Chinese FamiliesSemantic proximity
Three different causes of hypercalciuria.Semantic proximity
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family.Semantic proximity
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family.Semantic proximity
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.Semantic proximity
A Novel Mutation in CLDN16 Gene Causing Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis in An Iranian Family.Semantic proximity
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.Semantic proximity
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report.Semantic proximity
Select a neighboring publication to make it the new centre.