The 13 references in paper J. Leviashvili G., N. Savenkova D., M. Smirnova M., A. Syrzova R., T. Karpova V., Ж. Левиашвили Г., Н. Савенкова Д., М. Смирнова М., А. Сырцова Р., Т. Карпова В. (2013) “МЕТИЛМАЛОНОВАЯ АЦИДЕМИЯ У СИБСОВ // METHYLMALONIC ACIDEMIA IN SIBLINGS” / spz:neicon:nefr:y:2013:i:3:p:93-98

1
HTTP://WWW.NCBI.NLM.NIH.GOV Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. SourceGeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993.2005. Chapter 9, section [M]: Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. Initial Posting: August 16, 2005; Last Update: September 28, 2010
(check this in PDF content)
2
Shapira SK, Ledley FD, Rosenblatt DS, Levy HL. Ketoacidotic crisis as a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119:80–84
(check this in PDF content)
3
Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 2006;27:640–643
(check this in PDF content)
4
Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007;62:225–230
(check this in PDF content)
5
Rutledge SL, Geraghty M, Mroczek E et al. Tubulointerstitial nephritis in metilmalonic academia Pediatr Nephrol 1993; 7:81-83
(check this in PDF content)
6
Vant Hoff W. Renal Manifestations of Disorders (2007) Pediatric Nephrology. Edited – E.D. Avner, W.E Harmon, P. Niaudet, N. Yoshkawa Springer 2009; 1219-1234
(check this in PDF content)
7
Vant Hoff W. Methylmalonic Academia. Abstracts 14 th Congress of the internacional Pediatric Nephrology Association. 31August – 4 September, 2007 Budapest, Hungary. PediatrNephrol 2007; 22:1438
(check this in PDF content)
8
Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 2009;147:929–933
(check this in PDF content)
9
Walter JH, Michalski A, Wilson WM, Leonard JV, Barratt TM, Dillon MJ. Chronic renal failure in methylmalonic acidaemia. Eur J Pediatr 1989;148:344–348
(check this in PDF content)
10
D’Angio CT, Dillon MJ, Leonard JV. Renal tubular dysfunction in methylmalonic acidaemia. Eur J Pediatr 1991;150:259–263
(check this in PDF content)
11
Lubrano R, Scoppi P, Barsotti P, Travasso E, Scateni S, Cristaldi S, Castello MA. Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. Pediatr Nephrol 2001;16:848–851
(check this in PDF content)
12
Vant Hoff WG, Dixon M, Taylor J et al. Combined liverkidney transplantation in methylmalonic acidemia. J Pediatr 1998;132:1043-1044
(check this in PDF content)
13
Morath MA, Hörster F, Sauer S.W. Renal dysfunction in methylmalonic acidurias: revier for the pediatric nephrologist. Pediatr. Nephrol 2013; 28:227-235 Поступила в редакцию 17.04.2013 г. Принята в печать 05.06.2013 г.
(check this in PDF content)