ArticleIndian journal of pediatrics2008
A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
Article in Indian journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 19 citations in OpenAlex.
- A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.The American journal of case reports · 2024Article
- Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.CEN case reports · 2023Review
- Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary HypocalcemiaJournal of clinical research in pediatric endocrinology · 2021Article
- Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.Journal of clinical research in pediatric endocrinology · 2016Article
- New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.European journal of human genetics : EJHG · 2014Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
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