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familial hypomagnesemia with hypercalciuria and nephrocalcinosis相关文献:
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.
PMID:33595712
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.
PMID:36606514
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.
PMID:30814796
[Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. Its history].
García-Nieto VM, Claverie-Martín F, Loris-Pablo C.
Nefrologia. 2014;34(1):5-10. doi: 10.3265/Nefrologia.pre2013.Nov.12230.
PMID:24463860
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.
Claverie-Martin F.
Clin Kidney J. 2015 Dec;8(6):656-64. doi: 10.1093/ckj/sfv081. Epub 2015 Sep 1.
PMID:26613020
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.
PMID:34761296
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.
PMID:34504727
Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Cimbek EA, Şen Y, Yuca SA, Peru H.
J Pediatr Endocrinol Metab. 2015 May;28(5-6):713-6. doi: 10.1515/jpem-2013-0254.
PMID:25720051
Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.
Vall-Palomar M, Burballa C, Claverie-Martín F, Meseguer A, Ariceta G.
J Nephrol. 2021 Dec;34(6):2053-2062. doi: 10.1007/s40620-021-01054-6. Epub 2021 Apr 30.
PMID:33929692
Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene.
Radonsky V, Kizys MML, Dotto RP, Esper PLG, Heilberg IP, Dias-da-Silva MR, Lazaretti-Castro M.
Calcif Tissue Int. 2020 Oct;107(4):403-408. doi: 10.1007/s00223-020-00726-y. Epub 2020 Jul 24.
PMID:32710267
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