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Journal Abstract Search

199 related items for PubMed ID: 1593355

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  • 25. Hemolytic-uremic syndrome: hereditary forms and forms associated with hereditary diseases.
    Niaudet P, Gagnadoux MF, Broyer M, Salomon R.
    Adv Nephrol Necker Hosp; 2000; 30():261-80. PubMed ID: 11068647
    [No Abstract] [Full Text] [Related]

  • 26. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
    Sharma AP, Greenberg CR, Prasad AN, Prasad C.
    Pediatr Nephrol; 2007 Dec; 22(12):2097-103. PubMed ID: 17874135
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  • 27. 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; 225(5):491-4. PubMed ID: 18454408
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  • 28. 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; 108(3):410-5. PubMed ID: 3950820
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  • 29. 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; 24(4):511-2. PubMed ID: 11596656
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  • 30. 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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  • 31. 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
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  • 32. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
    Froese DS, Zhang J, Healy S, Gravel RA.
    Mol Genet Metab; 2009 Dec 15; 98(4):338-43. PubMed ID: 19700356
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  • 33. 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 15; 43(2):135-8. PubMed ID: 20610126
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  • 34. Abnormal deoxyuridine suppression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man.
    Carmel R, Goodman SI.
    Blood; 1982 Feb 15; 59(2):306-11. PubMed ID: 7055641
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  • 35. Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria.
    Tsina EK, Marsden DL, Hansen RM, Fulton AB.
    Arch Ophthalmol; 2005 Aug 15; 123(8):1143-6. PubMed ID: 16087854
    [No Abstract] [Full Text] [Related]

  • 36. Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.
    Labrune P, Zittoun J, Duvaltier I, Trioche P, Marquet J, Niaudet P, Odièvre M.
    Eur J Pediatr; 1999 Sep 15; 158(9):734-9. PubMed ID: 10485306
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  • 37. A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia.
    Mamlok RJ, Isenberg JN, Rassin DK, Norcross K, Tallan HH.
    Neuropediatrics; 1986 May 15; 17(2):94-9. PubMed ID: 2873525
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  • 38. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
    Roze E, Gervais D, Demeret S, Ogier de Baulny H, Zittoun J, Benoist JF, Said G, Pierrot-Deseilligny C, Bolgert F.
    Arch Neurol; 2003 Oct 15; 60(10):1457-62. PubMed ID: 14568819
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  • 39. 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
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  • 40. Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
    Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E.
    Epilepsia; 2002 Jun 15; 43(6):616-22. PubMed ID: 12060021
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