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Journal Abstract Search

251 related items for PubMed ID: 34454844

  • 21. Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
    Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR.
    Int J Dev Neurosci; 2023 Oct; 83(6):489-504. PubMed ID: 37340513
    [Abstract] [Full Text] [Related]

  • 22. ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
    Wu JY, Kao HJ, Li SC, Stevens R, Hillman S, Millington D, Chen YT.
    J Clin Invest; 2004 Feb; 113(3):434-40. PubMed ID: 14755340
    [Abstract] [Full Text] [Related]

  • 23. Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
    Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y.
    Eur J Med Genet; 2015 Nov; 58(11):617-23. PubMed ID: 26453840
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  • 24. Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease.
    Streck EL, Bussular FP, Wessler LB, Duarte MB, Rezende VL, Rodrigues MS, Torres CA, Lemos IS, Candiotto G, Gava FF, de Oliveira J, Valvassori SS.
    Metab Brain Dis; 2021 Feb; 36(2):247-254. PubMed ID: 33098071
    [Abstract] [Full Text] [Related]

  • 25. Branched-chain amino acids (BCAA) administration increases autophagy and the autophagic pathway in brain tissue of rats submitted to a Maple Syrup Urine Disease (MSUD) protocol.
    Fermo KT, da Silva Lemos I, Farias HR, Rosso MP, Effting PS, Leipnitz G, Streck EL.
    Metab Brain Dis; 2023 Jan; 38(1):287-293. PubMed ID: 36305998
    [Abstract] [Full Text] [Related]

  • 26. Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
    Mitsubuchi H, Owada M, Endo F.
    J Nutr; 2005 Jun; 135(6 Suppl):1565S-70S. PubMed ID: 15930470
    [Abstract] [Full Text] [Related]

  • 27. Molecular basis of various forms of maple syrup urine disease in Chilean patients.
    Campanholi DRR, Margutti AVB, Silva WA, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS.
    Mol Genet Genomic Med; 2021 May; 9(5):e1616. PubMed ID: 33955723
    [Abstract] [Full Text] [Related]

  • 28. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I.
    Rinsho Byori; 1993 May; 41(5):484-91. PubMed ID: 8350511
    [Abstract] [Full Text] [Related]

  • 29. Case report: maple syrup urine disease with a novel DBT gene mutation.
    Feng W, Jia J, Guan H, Tian Q.
    BMC Pediatr; 2019 Dec 13; 19(1):494. PubMed ID: 31830945
    [Abstract] [Full Text] [Related]

  • 30. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
    Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC.
    Eur J Med Genet; 2015 Sep 13; 58(9):471-8. PubMed ID: 26257134
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  • 32. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Sep 13; 43(2):91-100. PubMed ID: 9621512
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  • 36. Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
    Riazi R, Rafii M, Clarke JT, Wykes LJ, Ball RO, Pencharz PB.
    Am J Physiol Endocrinol Metab; 2004 Jul 13; 287(1):E142-9. PubMed ID: 14970005
    [Abstract] [Full Text] [Related]

  • 37. [Progress of research on Maple syrup disease].
    Yang C, Chen T, Lei X, Liu Y, Xu M, Yang D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):737-741. PubMed ID: 31302925
    [Abstract] [Full Text] [Related]

  • 38. Living related versus deceased donor liver transplantation for maple syrup urine disease.
    Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA.
    Mol Genet Metab; 2016 Mar 10; 117(3):336-43. PubMed ID: 26786177
    [Abstract] [Full Text] [Related]

  • 39. Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
    Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS.
    Am J Med Genet A; 2020 Nov 10; 182(11):2486-2500. PubMed ID: 32812330
    [Abstract] [Full Text] [Related]

  • 40. Utility of hemodialysis in maple syrup urine disease.
    Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ.
    Pediatr Nephrol; 2002 Apr 10; 17(4):239-42. PubMed ID: 11956873
    [Abstract] [Full Text] [Related]

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