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Journal Abstract Search

215 related items for PubMed ID: 15221473

  • 1. 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; 163(7):420-1. PubMed ID: 15221473
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  • 3. Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
    Cerone R, Schiaffino MC, Caruso U, Lupino S, Gatti R.
    J Inherit Metab Dis; 1999 May; 22(3):247-50. PubMed ID: 10384379
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  • 4. Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
    Shinnar S, Singer HS.
    N Engl J Med; 1984 Aug 16; 311(7):451-4. PubMed ID: 6749192
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  • 5. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
    Gaillard MC, Matthieu JM, Borruat FX.
    Klin Monbl Augenheilkd; 2008 May 16; 225(5):491-4. PubMed ID: 18454408
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  • 6. 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 16; 151(11):818-20. PubMed ID: 1468456
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  • 8. 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 16; 120(6):934-7. PubMed ID: 1593355
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  • 9. An infant with subdural hematoma and retinal hemorrhages: does von Willebrand disease explain the findings?
    Stray-Pedersen A, Omland S, Nedregaard B, Klevberg S, Rognum TO.
    Forensic Sci Med Pathol; 2011 Mar 16; 7(1):37-41. PubMed ID: 20593252
    [Abstract] [Full Text] [Related]

  • 10. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gerth C, Morel CF, Feigenbaum A, Levin AV.
    J AAPOS; 2008 Dec 16; 12(6):591-6. PubMed ID: 18848477
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  • 11. Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
    Frattini D, Fusco C, Ucchino V, Tavazzi B, Della Giustina E.
    Pediatr Neurol; 2010 Aug 16; 43(2):135-8. PubMed ID: 20610126
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  • 12. 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 16; 99(2):116-23. PubMed ID: 19836982
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  • 13. 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 16; 30(5):811. PubMed ID: 17768669
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  • 14. An inborn error of bile salt transport with features mimicking abusive head trauma.
    Hendrickson DJ, Knisely AS, Coulter K, Telander DG, Quan R, Ruebner BH, Leigh MJ.
    Child Abuse Negl; 2010 Jul 16; 34(7):472-6. PubMed ID: 20627390
    [No Abstract] [Full Text] [Related]

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  • 17. 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 16; 88(4):315-21. PubMed ID: 16714133
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  • 19. CblC/D defect combined with haemodynamically highly relevant VSD.
    Tomaske M, Bosk A, Heinemann MK, Sieverding L, Baumgartner ER, Fowler B, Trefz FK.
    J Inherit Metab Dis; 2001 Aug 16; 24(4):511-2. PubMed ID: 11596656
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  • 20. Ocular manifestations of child abuse.
    Elner VM.
    Arch Ophthalmol; 2008 Aug 16; 126(8):1141-2. PubMed ID: 18695112
    [No Abstract] [Full Text] [Related]

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