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Journal Abstract Search

199 related items for PubMed ID: 1593355

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  • 7. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria.
    Bellini C, Cerone R, Bonacci W, Caruso U, Magliano CP, Serra G, Fowler B, Romano C.
    Eur J Pediatr; 1992 Nov; 151(11):818-20. PubMed ID: 1468456
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  • 8. Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.
    Baumgartner ER, Wick H, Maurer R, Egli N, Steinmann B.
    Helv Paediatr Acta; 1979 Nov; 34(5):465-82. PubMed ID: 528229
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  • 9. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria.
    Cogan DG, Schulman J, Porter RJ, Mudd SH.
    Am J Ophthalmol; 1980 Aug; 90(2):251-3. PubMed ID: 7425038
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  • 10. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
    Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.
    Mol Genet Metab; 2010 Feb; 99(2):116-23. PubMed ID: 19836982
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  • 11. [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. PubMed ID: 8849144
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  • 13. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
    Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC.
    Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
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  • 14. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
    Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.
    J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
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  • 16. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
    Morel CF, Lerner-Ellis JP, Rosenblatt DS.
    Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
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  • 17. Gene discovery in methylmalonic aciduria and homocystinuria.
    Thiele J, Van Raamsdonk JM.
    Clin Genet; 2006 May; 69(5):402-3. PubMed ID: 16650077
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  • 18. [Combined methylmalonic acidemia and homocystinuria; a case report].
    Jiménez Varo I, Bueno Delgado M, Dios Fuentes E, Delgado Pecellin C, González Meneses A, Soto Moreno A, Venegas Moreno E.
    Nutr Hosp; 2015 Apr 01; 31(4):1885-8. PubMed ID: 25795986
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  • 19. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.
    Francis PJ, Calver DM, Barnfield P, Turner C, Dalton RN, Champion MP.
    Eur J Pediatr; 2004 Jul 01; 163(7):420-1. PubMed ID: 15221473
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