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Journal Abstract Search

365 related items for PubMed ID: 29753318

  • 21. An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease--screened by tandem mass spectrometry.
    Lin JF, Chiu PC, Hsu HY, Lin SM, Chen YY, Hsieh KS.
    Acta Paediatr Taiwan; 2004; 45(5):287-9. PubMed ID: 15868812
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  • 22. 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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  • 29. A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD).
    Hallam P, Lilburn M, Lee PJ.
    J Inherit Metab Dis; 2005 Aug; 28(5):665-72. PubMed ID: 16151896
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  • 32. Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
    Harty S, King MD, McCoy B, Costigan D, Treacy EP.
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S209-11. PubMed ID: 18855118
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  • 34. Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
    Scott AI, Cusmano-Ozog K, Enns GM, Cowan TM.
    Mol Genet Metab; 2017 Dec; 122(4):156-159. PubMed ID: 29032949
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  • 36. Treatment of maple syrup urine disease with high flow hemodialysis in a neonate.
    Aygün F, Kıykım E, Aktuğlu-Zeybek Ç, Zubarioğlu T, Cam H.
    Turk J Pediatr; 2019 Dec; 61(1):107-110. PubMed ID: 31559730
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  • 38. Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.
    Parsons HG, Carter RJ, Unrath M, Snyder FF.
    J Inherit Metab Dis; 1990 Dec; 13(2):125-36. PubMed ID: 2116544
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  • 39. Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
    Greig JA, Jennis M, Dandekar A, Chorazeczewski JK, Smith MK, Ashley SN, Yan H, Wilson JM.
    Mol Genet Metab; 2021 Dec; 134(1-2):139-146. PubMed ID: 34454844
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  • 40. [Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
    Yang N, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2839-42. PubMed ID: 23290213
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