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Journal Abstract Search

225 related items for PubMed ID: 41966

  • 1. Methylmalonic acidemia.
    Cohen JJ.
    Kidney Int; 1979 Mar; 15(3):311-20. PubMed ID: 41966
    [No Abstract] [Full Text] [Related]

  • 2. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

  • 3. Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
    Ampola MG, Mahoney MJ, Nakamura E, Tanaka K.
    N Engl J Med; 1975 Aug 14; 293(7):313-7. PubMed ID: 239344
    [Abstract] [Full Text] [Related]

  • 4. [Methylmalonic acidemia. Diagnosis and treatment in various patients].
    Bakker HD, Duran M, van Gennip AH, van Sprang FJ, Wadman SK.
    Ned Tijdschr Geneeskd; 1978 May 20; 122(20):707-12. PubMed ID: 26029
    [No Abstract] [Full Text] [Related]

  • 5. Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.
    Baumgartner R, Giardini O, Cantani A, Sabetta G, Castro M.
    J Inherit Metab Dis; 1982 May 20; 5(3):137-41. PubMed ID: 6133033
    [Abstract] [Full Text] [Related]

  • 6. Recent advances in the inherited methylmalonic acidemias.
    Mahoney MJ, Bick D.
    Acta Paediatr Scand; 1987 Sep 20; 76(5):689-96. PubMed ID: 2889315
    [Abstract] [Full Text] [Related]

  • 7. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
    Goodman SI, McCabe ER, Fennessey PV, Miles BS, Mace JW, Jellum E.
    Clin Chim Acta; 1978 Aug 01; 87(3):441-9. PubMed ID: 28187
    [Abstract] [Full Text] [Related]

  • 8. [Study of a case of methylmalonic acidemia of neonatal onset. Therapeutic value of peritoneal dialysis. Discussion of vitamin B 12 sensitivity].
    Saudubray JM, Boisse J, Charpentier C, Lemonnier A, Mozziconacci P.
    Arch Fr Pediatr; 1972 Aug 01; 29(6):676-7. PubMed ID: 5078375
    [No Abstract] [Full Text] [Related]

  • 9. Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
    Narisawa K, Saito T, Hisa S, Suzuki H, Hayasaka K.
    Tohoku J Exp Med; 1977 Sep 01; 123(1):1-8. PubMed ID: 21471
    [Abstract] [Full Text] [Related]

  • 10. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
    Kakinuma H, Ogura N, Ohtake A, Takayanagi M, Nakajima H, Kondo H, Terada H, Okuda K, Nomoto Y.
    J Inherit Metab Dis; 1985 Sep 01; 8(3):151-2. PubMed ID: 2879965
    [No Abstract] [Full Text] [Related]

  • 11. Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.
    Wilcken B, Kilham HA, Faull K.
    J Pediatr; 1977 Sep 01; 91(3):428-30. PubMed ID: 19569
    [Abstract] [Full Text] [Related]

  • 12. Methylmalonic acid excretion in methylmalonic acidemia.
    Kelly S, Cowger M.
    N Y State J Med; 1980 Feb 01; 80(2):240-3. PubMed ID: 6929423
    [No Abstract] [Full Text] [Related]

  • 13. The natural history of the inherited methylmalonic acidemias.
    Matsui SM, Mahoney MJ, Rosenberg LE.
    N Engl J Med; 1983 Apr 14; 308(15):857-61. PubMed ID: 6132336
    [Abstract] [Full Text] [Related]

  • 14. First trimester diagnosis of methylmalonic aciduria.
    Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK.
    Prenat Diagn; 1988 Mar 14; 8(3):207-13. PubMed ID: 2897685
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia. II. In vitro binding kinetics with adenosylcobalamin.
    Morrow G, Lebowitz J.
    Biochem Med; 1976 Jun 15; 15(3):241-5. PubMed ID: 11786
    [No Abstract] [Full Text] [Related]

  • 17. Methylmalonic acidemia.
    Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y.
    Eur J Pediatr; 1978 Jul 03; 128(3):181-6. PubMed ID: 27367
    [Abstract] [Full Text] [Related]

  • 18. [Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
    Saudubray JM, Charpentier C, Coude FX, Ogier H, Pham Dinh D, Bartlett K, Gompertz D.
    Arch Fr Pediatr; 1980 Jul 03; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
    [Abstract] [Full Text] [Related]

  • 19. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
    Giardini O, Marzetti G, Lubrano R, Laurenti F, Martino F, Mannarino O, D'Eufemia P, Ruberto U.
    Minerva Pediatr; 1980 Sep 15; 32(17):1039-46. PubMed ID: 6109233
    [No Abstract] [Full Text] [Related]

  • 20. A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts.
    Morrow G, Revsin B, Clark R, Lebowitz J, Whelan DT.
    Clin Chim Acta; 1978 Apr 03; 85(1):67-72. PubMed ID: 25730
    [Abstract] [Full Text] [Related]

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