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Journal Abstract Search

125 related items for PubMed ID: 16601893

  • 1. Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
    Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K.
    J Inherit Metab Dis; 2006 Feb; 29(1):203-4. PubMed ID: 16601893
    [Abstract] [Full Text] [Related]

  • 2. Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.
    Aptowitzer I, Saada A, Faber J, Kleid D, Elpeleg ON.
    J Pediatr Gastroenterol Nutr; 1997 May; 24(5):599-601. PubMed ID: 9161958
    [No Abstract] [Full Text] [Related]

  • 3. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
    Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON.
    Am J Med Genet; 1999 Jan 15; 82(2):177-82. PubMed ID: 9934985
    [Abstract] [Full Text] [Related]

  • 4. Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
    Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A.
    Hum Mutat; 1997 Jan 15; 10(3):256-7. PubMed ID: 9298831
    [No Abstract] [Full Text] [Related]

  • 5. Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.
    Hong YS, Korman SH, Lee J, Ghoshal P, Wu Q, Barash V, Kang S, Oh S, Kwon M, Gutman A, Rachmel A, Patel MS.
    J Inherit Metab Dis; 2003 Jan 15; 26(8):816-8. PubMed ID: 14765544
    [Abstract] [Full Text] [Related]

  • 6. [Lipoamide dehydrogenase deficiency].
    Ito M, Matsuda J.
    Ryoikibetsu Shokogun Shirizu; 1998 Jan 15; (18 Pt 1):341-2. PubMed ID: 9590063
    [No Abstract] [Full Text] [Related]

  • 7. Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults.
    Barak N, Huminer D, Segal T, Ben Ari Z, Halevy J, Tur-Kaspa R.
    J Hepatol; 1998 Sep 15; 29(3):482-4. PubMed ID: 9764998
    [Abstract] [Full Text] [Related]

  • 8. Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
    Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J.
    Muscle Nerve; 1997 Feb 15; 20(2):238-40. PubMed ID: 9040667
    [No Abstract] [Full Text] [Related]

  • 9. Ashkenazi Jewish screening in the twenty-first century.
    Klugman S, Gross SJ.
    Obstet Gynecol Clin North Am; 2010 Mar 15; 37(1):37-46. PubMed ID: 20494256
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
    Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.
    Am J Med Genet A; 2006 Jul 15; 140(14):1542-52. PubMed ID: 16770810
    [Abstract] [Full Text] [Related]

  • 11. Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism.
    Ambrus A, Adam-Vizi V.
    Neurochem Int; 2018 Jul 15; 117():5-14. PubMed ID: 28579060
    [Abstract] [Full Text] [Related]

  • 12. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
    Hong YS, Kerr DS, Craigen WJ, Tan J, Pan Y, Lusk M, Patel MS.
    Hum Mol Genet; 1996 Dec 15; 5(12):1925-30. PubMed ID: 8968745
    [Abstract] [Full Text] [Related]

  • 13. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
    Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J.
    Eur J Pediatr; 2003 Oct 15; 162(10):714-8. PubMed ID: 12925875
    [Abstract] [Full Text] [Related]

  • 14. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
    Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA.
    Am J Hum Genet; 2001 Oct 15; 69(4):863-8. PubMed ID: 11509994
    [Abstract] [Full Text] [Related]

  • 15. Lipoamide dehydrogenase activity in lymphocytes.
    Berger I, Elpeleg ON, Saada A.
    Clin Chim Acta; 1996 Dec 30; 256(2):197-201. PubMed ID: 9027430
    [Abstract] [Full Text] [Related]

  • 16. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.
    Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M.
    J Med Genet; 1991 Mar 30; 28(3):177-80. PubMed ID: 1828838
    [Abstract] [Full Text] [Related]

  • 17. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 30; 25(3):323-4. PubMed ID: 15712224
    [Abstract] [Full Text] [Related]

  • 18. ATP synthesis in lipoamide dehydrogenase deficiency.
    Saada A, Aptowitzer I, Link G, Elpeleg ON.
    Biochem Biophys Res Commun; 2000 Mar 16; 269(2):382-6. PubMed ID: 10708561
    [Abstract] [Full Text] [Related]

  • 19. Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
    Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A.
    Eur J Pediatr; 2014 Feb 16; 173(2):243-5. PubMed ID: 23995961
    [Abstract] [Full Text] [Related]

  • 20. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON.
    Biochem Biophys Res Commun; 1999 Aug 19; 262(1):163-6. PubMed ID: 10448086
    [Abstract] [Full Text] [Related]

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