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Journal Abstract Search

233 related items for PubMed ID: 16650077

  • 1. Gene discovery in methylmalonic aciduria and homocystinuria.
    Thiele J, Van Raamsdonk JM.
    Clin Genet; 2006 May; 69(5):402-3. PubMed ID: 16650077
    [No Abstract] [Full Text] [Related]

  • 2. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
    Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.
    Nat Genet; 2006 Jan; 38(1):93-100. PubMed ID: 16311595
    [Abstract] [Full Text] [Related]

  • 3. 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
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
    Yuen YP, Lai CK, Chan YW, Lam CW, Tong SF, Chan KY.
    Clin Chim Acta; 2007 Jan 16; 375(1-2):171-2. PubMed ID: 16963011
    [No Abstract] [Full Text] [Related]

  • 6. Gene identification for the cblD defect of vitamin B12 metabolism.
    Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B.
    N Engl J Med; 2008 Apr 03; 358(14):1454-64. PubMed ID: 18385497
    [Abstract] [Full Text] [Related]

  • 7. 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 03; 52(4):223-6. PubMed ID: 21835369
    [Abstract] [Full Text] [Related]

  • 8. 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 03; 30(5):811. PubMed ID: 17768669
    [Abstract] [Full Text] [Related]

  • 9. Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.
    Wu S, Gonzalez-Gomez I, Coates T, Yano S.
    Pediatr Hematol Oncol; 2005 Dec 03; 22(8):717-21. PubMed ID: 16251179
    [Abstract] [Full Text] [Related]

  • 10. 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 03; 60(1):107-8. PubMed ID: 8558138
    [No Abstract] [Full Text] [Related]

  • 11. 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 03; 151(11):818-20. PubMed ID: 1468456
    [Abstract] [Full Text] [Related]

  • 12. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
    Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA.
    Am J Med Genet A; 2007 Oct 15; 143A(20):2430-4. PubMed ID: 17853453
    [Abstract] [Full Text] [Related]

  • 13. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
    Tang H, Hao H, Tang SH, Chen X, Liu F, Cha QB, Li YQ, Li HJ, Sun L, Yu M, Xiao X, Zhou TH.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb 15; 26(1):62-5. PubMed ID: 19199254
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 120(6):934-7. PubMed ID: 1593355
    [Abstract] [Full Text] [Related]

  • 15. [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
    Urbón Artero A, Aldana Gómez J, Reig Del Moral C, Nieto Conde C, Merinero Cortés B.
    An Esp Pediatr; 2002 Apr 15; 56(4):337-41. PubMed ID: 11927078
    [Abstract] [Full Text] [Related]

  • 16. Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
    Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stöckler-Ipsiroglu S, Wagner C, Scaglia F.
    Ann Neurol; 2005 Apr 15; 57(4):557-60. PubMed ID: 15786446
    [Abstract] [Full Text] [Related]

  • 17. [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 15; 45(1):97-8. PubMed ID: 8849144
    [No Abstract] [Full Text] [Related]

  • 18. Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
    Ribes A, Briones P, Vilaseca MA, Lluch M, Rodes M, Maya A, Campistol J, Pascual P, Suormala T, Baumgartner R.
    Eur J Pediatr; 1990 Mar 15; 149(6):412-5. PubMed ID: 2332011
    [Abstract] [Full Text] [Related]

  • 19. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
    Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.
    Mol Genet Metab; 2006 Mar 15; 87(3):219-25. PubMed ID: 16410054
    [Abstract] [Full Text] [Related]

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