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familial primary hypomagnesemia相关文献:
Claudins and mineral metabolism.
Hou J.
Curr Opin Nephrol Hypertens. 2016 Jul;25(4):308-13. doi: 10.1097/MNH.0000000000000239.
PMID:27191348
Magnesium metabolism in childhood.
Geven WB, Monnens LA, Willems JL.
Miner Electrolyte Metab. 1993;19(4-5):308-13.
PMID:8264518
Mechanisms and causes of hypomagnesemia.
Agus ZS.
Curr Opin Nephrol Hypertens. 2016 Jul;25(4):301-7. doi: 10.1097/MNH.0000000000000238.
PMID:27219040
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
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF.
J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4.
PMID:34607910
Primary familial hypomagnesemia syndrome: a new approach in treatment.
Nesibe A, Sinasi O.
J Pediatr Endocrinol Metab. 2012;25(5-6):599-602.
PMID:22876566
[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
Genetic causes of hypomagnesemia, a clinical overview.
Viering DHHM, de Baaij JHF, Walsh SB, Kleta R, Bockenhauer D.
Pediatr Nephrol. 2017 Jul;32(7):1123-1135. doi: 10.1007/s00467-016-3416-3. Epub 2016 May 27.
PMID:27234911
Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy.
Shu SG, Mak SC, Chen YC, Chi CS.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Jul-Aug;38(4):293-6.
PMID:9297931
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R.
Clin J Am Soc Nephrol. 2012 May;7(5):801-9. doi: 10.2215/CJN.12841211. Epub 2012 Mar 15.
PMID:22422540
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