Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/27/2/667/6904434/gfr300.pdf
Reference18 articles.
1. Genetics of hereditary disorders of magnesium homeostasis
2. Insights into the molecular nature of magnesium homeostasis
3. CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
4. Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population
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1. A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant;AM J CASE REP;2024
2. Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene;Journal of Pediatric Endocrinology and Metabolism;2023-12-13
3. Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature;CEN Case Reports;2023-03-26
4. Disorders of Calcium and Magnesium Metabolism;Pediatric Kidney Disease;2023
5. Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review;Frontiers in Pediatrics;2022-07-12
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