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autosomal recessive polycystic kidney disease相关文献:
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
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
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
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
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
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
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
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
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
Chandar J, Garcia J, Jorge L, Tekin A.
Pediatr Nephrol. 2015 Aug;30(8):1233-42. doi: 10.1007/s00467-014-2887-3. Epub 2014 Aug 13.
PMID:25115876
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie).
Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x.
PMID:15698423
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