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methylmalonic aciduria associated nephropathy 相关文献:
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP.
JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097.
PMID:38271099
Combined liver-kidney transplantation for rare diseases.
Knotek M, Novak R, Jaklin-Kekez A, Mrzljak A.
World J Hepatol. 2020 Oct 27;12(10):722-737. doi: 10.4254/wjh.v12.i10.722.
PMID:33200012
[Kidney disease in cobalamin C deficiency].
Lemoine M, Grangé S, Guerrot D.
Nephrol Ther. 2019 Jul;15(4):201-214. doi: 10.1016/j.nephro.2019.03.011. Epub 2019 May 23.
PMID:31130431
Late-onset methylmalonic acidemia and homocysteinemia.
Brox-Torrecilla N, Arhip L, Miguélez-González M, Castellano-Gasch S, Contreras-Chicote A, Rodríguez-Ferrero ML, Motilla de la Cámara ML, Serrano-Moreno C, Cuerda Compes C.
Nutr Hosp. 2021 Jul 29;38(4):871-875. doi: 10.20960/nh.03623.
PMID:34132563
Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child.
Chioukh FZ, Monastiri K.
J Coll Physicians Surg Pak. 2019 Jun;29(6):S43-S44. doi: 10.29271/jcpsp.2019.06.S43.
PMID:31142418
Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.
Bain MD, Till J, Jones MG, Besley GT, Lee P, Oliveira D, Chalmers RA.
J Inherit Metab Dis. 2005;28(6):1179-80. doi: 10.1007/s10545-005-0244-1.
PMID:16435224
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria].
Rogé Canales M, Rodrigo Gonzalo de Liria C, Prats Viñas LJ, Vaquero Pérez M, Ribes Rubió A, Rodés Monegal M, Pintos Morell G.
An Esp Pediatr. 1996 Jul;45(1):97-8.
PMID:8849144
Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives.
Keller SA, Luciani A.
Cells. 2022 Oct 10;11(19):3179. doi: 10.3390/cells11193179.
PMID:36231140
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB, van Spronsen F, Diepstra A, Berger RM, Kömhoff M.
Pediatr Nephrol. 2017 May;32(5):733-741. doi: 10.1007/s00467-016-3399-0. Epub 2016 Jun 11.
PMID:27289364
Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia.
Lindblad B, Lindblad BS, Olin P, Svanberg B, Zetterström R.
Acta Paediatr Scand. 1968 Sep;57(5):417-24. doi: 10.1111/j.1651-2227.1968.tb07314.x.
PMID:5706053
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