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Gitelman syndrom相关文献:
Bartter Syndrome and Gitelman Syndrome.
Fulchiero R, Seo-Mayer P.
Pediatr Clin North Am. 2019 Feb;66(1):121-134. doi: 10.1016/j.pcl.2018.08.010.
PMID:30454738
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X.
J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17.
PMID:21415153
Mitochondrial Dysfunction in Kidney Tubulopathies.
Hoogstraten CA, Hoenderop JG, de Baaij JHF.
Annu Rev Physiol. 2024 Feb 12;86:379-403. doi: 10.1146/annurev-physiol-042222-025000. Epub 2023 Nov 27.
PMID:38012047
Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.
Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA.
Int J Mol Sci. 2021 Oct 22;22(21):11414. doi: 10.3390/ijms222111414.
PMID:34768847
[Bartter-Gitelman syndromes].
Blanchard A, Courand PY, Livrozet M, Vargas-Poussou R.
Nephrol Ther. 2020 Jul;16(4):233-243. doi: 10.1016/j.nephro.2020.06.001. Epub 2020 Jul 1.
PMID:32622651
Gitelman syndrome.
Park PG Jr, Karet Frankl FE.
BMJ. 2012 May 29;344:e3590. doi: 10.1136/bmj.e3590.
PMID:22645210
Bartter and Gitelman syndromes.
Zieg J, Doležel Z.
Cas Lek Cesk. 2022 Summer;161(3-4):131-134.
PMID:36100451
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF.
Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11.
PMID:35894287
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium.
J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4.
PMID:34607911
Bartter's and Gitelman's syndrome.
Seyberth HW, Weber S, Kömhoff M.
Curr Opin Pediatr. 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447.
PMID:27906863
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