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33
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, De Klerk JB, Maritz C, Ben-Omran T,
Williamson C, Lachmann RH, and Murphy E. 2011. A series of pregnancies in women with inherited
metabolic disease. J Inherit Metab Dis.
Leonard JV. 1995. The management and outcome of propionic and methylmalonic acidaemia. J
Inherit Metab Dis 18:430-434.
Lubrano R, Elli M, Rossi M, Travasso E, Raggi C, Barsotti P, Carducci C, and Berloco P. 2007. Renal
transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years
and review of the literature. Pediatr Nephrol 22:1209-1214.
Manoli I, and Venditti CP. 1993. Methylmalonic Acidemia.
Morath MA, Okun JG, Muller IB, Sauer SW, Horster F, Hoffmann GF, and Kolker S. 2008.
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological
approach. J Inherit Metab Dis 31:35-43.
Nicolaides P, Leonard J, and Surtees R. 1998. Neurological outcome of methylmalonic acidaemia.
Arch Dis Child 78:508-512.
Prada CE, Al JF, Kirk EP, Hopp M, Jones O, Leslie ND, and Burrow TA. 2011. Cardiac disease in
methylmalonic acidemia. J Pediatr 159:862-864.
Saudubray J, van den Berghe G, and Walter JH. 2011. Inborn Metabolic Diseases. Wurzburg,
Gemany: Springer.
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, and Hoffmann GF. 2003. Expanded
newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass
spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406.
Thompson GN, Chalmers RA, Walter JH, Bresson JL, Lyonnet SL, Reed PJ, Saudubray JM, Leonard JV,
and Halliday D. 1990. The use of metronidazole in management of methylmalonic and propionic
acidaemias. Eur J Pediatr 149:792-796.
Touati G, Valayannopoulos V, Mention K, de LP, Jouvet P, Depondt E, Assoun M, Souberbielle JC,
Rabier D, Ogier de BH, and Saudubray JM. 2006. Methylmalonic and propionic acidurias:
management without or with a few supplements of specific amino acid mixture. J Inherit Metab
Dis 29:288-298.
van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, Depondt E, Rapoport D,
Rabier D, Charpentier C, and . 1994. Clinical outcome of long-term management of patients with
vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 125:903-908.
Vlaardingerbroek H, Hornstra G, de Koning TJ, Smeitink JA, Bakker HD, de Klerk HB, and Rubio-
Gozalbo ME. 2006. Essential polyunsaturated fatty acids in plasma and erythrocytes of children
with inborn errors of amino acid metabolism. Mol Genet Metab 88:159-165.
Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, and Sansaricq C. 1999.
Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis 22:788-794.
Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, and Mejico LJ. 2009.
Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 147:929-
933.