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Journal Abstract Search

365 related items for PubMed ID: 29753318

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  • 2. Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
    Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT.
    JPEN J Parenter Enteral Nutr; 2015 Sep; 39(7):875-9. PubMed ID: 24618664
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  • 5. Pregnancy in a woman with maple syrup urine disease.
    Grünewald S, Hinrichs F, Wendel U.
    J Inherit Metab Dis; 1998 Apr; 21(2):89-94. PubMed ID: 9584259
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  • 6. Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
    Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH.
    Mol Genet Metab; 2020 Mar; 129(3):193-206. PubMed ID: 31980395
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  • 10. Oxidative stress in plasma from maple syrup urine disease patients during treatment.
    Barschak AG, Sitta A, Deon M, Barden AT, Dutra-Filho CS, Wajner M, Vargas CR.
    Metab Brain Dis; 2008 Mar; 23(1):71-80. PubMed ID: 18026828
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  • 11. Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.
    Zinnanti WJ, Lazovic J, Griffin K, Skvorak KJ, Paul HS, Homanics GE, Bewley MC, Cheng KC, Lanoue KF, Flanagan JM.
    Brain; 2009 Apr; 132(Pt 4):903-18. PubMed ID: 19293241
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  • 13. The utility of dried blood spot monitoring of branched-chain amino acids for maple syrup urine disease: A retrospective chart review study.
    Kaur J, Nagy L, Wan B, Saleh H, Schulze A, Raiman J, Inbar-Feigenberg M.
    Clin Chim Acta; 2020 Jan; 500():195-201. PubMed ID: 31678570
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  • 16. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.
    Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U.
    J Inherit Metab Dis; 2006 Aug; 29(4):532-7. PubMed ID: 16817013
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  • 17. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
    Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE.
    Mol Genet Metab; 2010 Jun; 100(2):136-42. PubMed ID: 20307994
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  • 18. Diagnosis of MSUD by newborn screening allows early intervention without extraneous detoxification.
    Heldt K, Schwahn B, Marquardt I, Grotzke M, Wendel U.
    Mol Genet Metab; 2005 Apr; 84(4):313-6. PubMed ID: 15781191
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