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Journal Abstract Search

194 related items for PubMed ID: 8558138

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  • 4. Cobalamin C defect associated with hemolytic-uremic syndrome.
    Geraghty MT, Perlman EJ, Martin LS, Hayflick SJ, Casella JF, Rosenblatt DS, Valle D.
    J Pediatr; 1992 Jun; 120(6):934-7. PubMed ID: 1593355
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  • 5. 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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  • 8. 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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  • 14. [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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  • 16. 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 01; 52(4):223-6. PubMed ID: 21835369
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  • 20. Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.
    Mitchell GA, Watkins D, Melançon SB, Rosenblatt DS, Geoffroy G, Orquin J, Homsy MB, Dallaire L.
    J Pediatr; 1986 Mar 01; 108(3):410-5. PubMed ID: 3950820
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