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Journal Abstract Search

290 related items for PubMed ID: 7744549

  • 1. Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.
    Korein J, Sansaricq C, Kalmijn M, Honig J, Lange B.
    Int J Neurosci; 1994 Nov; 79(1-2):21-45. PubMed ID: 7744549
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  • 3. Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.
    Amaral AU, Wajner M.
    Neurochem Int; 2022 Jul; 157():105360. PubMed ID: 35577033
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  • 5. EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
    Poothrikovil RP, Al Thihli K, Al Futaisi A.
    Neurodiagn J; 2021 Sep; 61(3):123-131. PubMed ID: 34449278
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  • 8. Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
    Schadewaldt P, Hammen HW, Ott AC, Wendel U.
    J Inherit Metab Dis; 1999 Aug; 22(6):706-22. PubMed ID: 10472531
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  • 10. Apoptotic signaling pathways induced by acute administration of branched-chain amino acids in an animal model of maple syrup urine disease.
    Vilela TC, Scaini G, Furlanetto CB, Pasquali MA, Santos JP, Gelain DP, Moreira JC, Schuck PF, Ferreira GC, Streck EL.
    Metab Brain Dis; 2017 Feb; 32(1):115-122. PubMed ID: 27510712
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  • 12. Metabolism of branched-chain amino acids in maple syrup urine disease.
    Schadewaldt P, Wendel U.
    Eur J Pediatr; 1997 Aug; 156 Suppl 1():S62-6. PubMed ID: 9266218
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  • 15. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.
    Wang XL, Li CJ, Xing Y, Yang YH, Jia JP.
    J Inherit Metab Dis; 2015 Sep; 38(5):855-61. PubMed ID: 25653144
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  • 17. Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates.
    Skvorak K, Liu J, Kruse N, Mehmood R, Das S, Jenne S, Chng C, Lao UL, Duan D, Asfaha J, Du F, Teadt L, Sero A, Ching C, Riggins J, Pope L, Yan P, Mashiana H, Ismaili MHA, McCluskie K, Huisman G, Silverman AP.
    J Inherit Metab Dis; 2023 Nov; 46(6):1089-1103. PubMed ID: 37494004
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  • 18. Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
    Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y.
    Eur J Med Genet; 2020 Jun; 63(6):103901. PubMed ID: 32151765
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  • 20. Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.
    Zimmerman HA, Olson KC, Chen G, Lynch CJ.
    Mol Genet Metab; 2013 Aug; 109(4):345-53. PubMed ID: 23800641
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