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autosomal recessive polycystic kidney disease相关文献:
The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Goggolidou P, Richards T.
Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166348. doi: 10.1016/j.bbadis.2022.166348. Epub 2022 Jan 12.
PMID:35032595
Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.
Burgmaier K, Broekaert IJ, Liebau MC.
Adv Kidney Dis Health. 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005.
PMID:38097335
Cilia and polycystic kidney disease.
Ma M.
Semin Cell Dev Biol. 2021 Feb;110:139-148. doi: 10.1016/j.semcdb.2020.05.003. Epub 2020 May 28.
PMID:32475690
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, Kerecuk L, Liebau MC, Alonso-Peclet MH, Shneider B, Emre S, Heller T, Kamath BM, Murray KF, Moise K, Eichenwald EE, Evans J, Keller RL, Wilkins-Haug L, Bergmann C, Gunay-Aygun M, Hooper SR, Hardy KK, Hartung EA, Streisand R, Perrone R, Moxey-Mims M.
J Pediatr. 2014 Sep;165(3):611-7. doi: 10.1016/j.jpeds.2014.06.015. Epub 2014 Jul 9.
PMID:25015577
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie; Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR.
Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25.
PMID:19940839
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium.
Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30.
PMID:33940108
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.
Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez MA.
Int J Mol Sci. 2021 Jun 17;22(12):6523. doi: 10.3390/ijms22126523.
PMID:34204582
Early clinical management of autosomal recessive polycystic kidney disease.
Liebau MC.
Pediatr Nephrol. 2021 Nov;36(11):3561-3570. doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17.
PMID:33594464
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA.
Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20.
PMID:19914852
Autosomal recessive polycystic kidney disease.
Society for Maternal-Fetal Medicine (SMFM); Swanson K.
Am J Obstet Gynecol. 2021 Nov;225(5):B7-B8. doi: 10.1016/j.ajog.2021.06.038. Epub 2021 Sep 8.
PMID:34507795
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