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Journal Abstract Search

313 related items for PubMed ID: 25795986

  • 1.
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  • 2. [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
    Huang Z, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Ji WJ, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Mar; 51(3):194-8. PubMed ID: 23751581
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  • 5. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
    Froese DS, Zhang J, Healy S, Gravel RA.
    Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
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  • 7. 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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  • 8. 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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  • 9. 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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  • 10. Treatment of cobalamin C (cblC) deficiency during pregnancy.
    Brunel-Guitton C, Costa T, Mitchell GA, Lambert M.
    J Inherit Metab Dis; 2010 Dec 16; 33 Suppl 3():S409-12. PubMed ID: 20830523
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  • 11. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
    Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME.
    Ophthalmic Genet; 2016 Dec 16; 37(4):404-414. PubMed ID: 26979128
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  • 14. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).
    Andersson HC, Shapira E.
    J Pediatr; 1998 Jan 16; 132(1):121-4. PubMed ID: 9470012
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  • 15. 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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  • 16. Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation.
    Liu YR, Ji YF, Wang YL, Zhang BA, Fang GY, Wang JT, Sun GF, Lu H.
    J Neurol Neurosurg Psychiatry; 2015 Apr 16; 86(4):472-5. PubMed ID: 25091368
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  • 17. Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset.
    Gold R, Bogdahn U, Kappos L, Toyka KV, Baumgartner ER, Fowler B, Wendel U.
    J Neurol Neurosurg Psychiatry; 1996 Jan 16; 60(1):107-8. PubMed ID: 8558138
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  • 18. Inborn errors of cobalamin absorption and metabolism.
    Watkins D, Rosenblatt DS.
    Am J Med Genet C Semin Med Genet; 2011 Feb 15; 157C(1):33-44. PubMed ID: 21312325
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  • 19. 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 15; 88(4):315-21. PubMed ID: 16714133
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