Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Vall-Palomar M, Madariaga L, Ariceta G.
Pediatr Nephrol. 2021 Oct;36(10):3045-3055. doi: 10.1007/s00467-021-04968-2. Epub 2021 Feb 17.
Furosemide rescues hypercalciuria in familial hypomagnesaemia with hypercalciuria and nephrocalcinosis model.
Kriuchkova N, Breiderhoff T, Müller D, Yilmaz DE, Demirci H, Drewell H, Günzel D, Himmerkus N, Bleich M, Persson PB, Mutig K.
Acta Physiol (Oxf). 2023 Mar;237(3):e13927. doi: 10.1111/apha.13927. Epub 2023 Jan 24.
Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation.
Margabandhu S, Doshi M.
Indian J Nephrol. 2019 Jan-Feb;29(1):57-61. doi: 10.4103/ijn.IJN_323_17.
Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7-Year-Old Girl: A Case Report.
Tonny RT, Mumu FA, Sharmim S, Huque SS.
Clin Case Rep. 2025 Dec 5;13(12):e71612. doi: 10.1002/ccr3.71612. eCollection 2025 Dec.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Praga M, Vara J, González-Parra E, Andrés A, Alamo C, Araque A, Ortiz A, Rodicio JL.
Kidney Int. 1995 May;47(5):1419-25. doi: 10.1038/ki.1995.199.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN16/CLDN19 mutations in four Chinese families.
Wang C, Ding J, Yang H, Huang L, Wang X.
Sci Rep. 2026 Mar 27;16(1):10903. doi: 10.1038/s41598-026-45530-0.
Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.
Vall-Palomar M, Torchia J, Morata J, Durán M, Tonda R, Ferrer M, Sánchez A, Cantero-Recasens G, Ariceta G, Meseguer A, Martinez C.
PLoS Genet. 2025 Apr 2;21(4):e1011568. doi: 10.1371/journal.pgen.1011568. eCollection 2025 Apr.
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
Eltan M, Yavas Abali Z, Turkyilmaz A, Gokce I, Abali S, Alavanda C, Arman A, Kirkgoz T, Guran T, Hatun S, Bereket A, Turan S.
Calcif Tissue Int. 2022 Apr;110(4):441-450. doi: 10.1007/s00223-021-00928-y. Epub 2021 Nov 11.
Magnesium metabolism.
Seo JW, Park TJ.
Electrolyte Blood Press. 2008 Dec;6(2):86-95. doi: 10.5049/EBP.2008.6.2.86. Epub 2008 Dec 31.
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis, and Bilateral Chorioretinal Atrophy in a Patient with Homozygous p.G75S Variant in CLDN19.
Rahmani N, Talebi S, Hooman N, Karamzade A.
J Pediatr Genet. 2021 Sep;10(3):230-235. doi: 10.1055/s-0041-1733852. Epub 2021 Jul 26.
