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Journal Abstract Search

398 related items for PubMed ID: 20307994

  • 1. 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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  • 2. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
    Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D.
    Clin Chem; 2008 Mar; 54(3):542-9. PubMed ID: 18178665
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  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Strauss KA, Puffenberger EG, Carson VJ.
    ; 1993 Mar. PubMed ID: 20301495
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  • 4. 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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  • 5. An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.
    Alodaib A, Carpenter K, Wiley V, Sim K, Christodoulou J, Wilcken B.
    Ann Clin Biochem; 2011 Sep; 48(Pt 5):468-70. PubMed ID: 21775576
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 9. Newborn screening of maple syrup urine disease and the effect of early diagnosis.
    Chen T, Lu D, Xu F, Ji W, Zhan X, Gao X, Qiu W, Zhang H, Liang L, Gu X, Han L.
    Clin Chim Acta; 2023 Aug 01; 548():117483. PubMed ID: 37421976
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  • 12. [Maple Syrup Urine Disease in a newborn infant].
    Mazur A, Sykut-Cegielska J, Ciebiera M, Trzeciak J, Taybert J, Kowalik A, Ołtarzewski M.
    Med Wieku Rozwoj; 2007 Aug 01; 11(1):65-8. PubMed ID: 17965467
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  • 13. Diagnosis and treatment of maple syrup disease: a study of 36 patients.
    Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI.
    Pediatrics; 2002 Jun 01; 109(6):999-1008. PubMed ID: 12042535
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  • 14. Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
    Silao CL, Padilla CD, Matsuo M.
    Pediatr Int; 2008 Jun 01; 50(3):312-4. PubMed ID: 18533943
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  • 15. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA, Healy PJ.
    Res Vet Sci; 1999 Aug 01; 67(1):1-6. PubMed ID: 10425233
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  • 16. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.
    Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW.
    Clin Chem; 1995 Jan 01; 41(1):62-8. PubMed ID: 7813082
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  • 19. 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 01; 182(11):2486-2500. PubMed ID: 32812330
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  • 20. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
    Bashyam MD, Chaudhary AK, Sinha M, Nagarajaram HA, Devi AR, Bashyam L, Reddy EC, Dalal A.
    J Cell Biochem; 2012 Oct 01; 113(10):3122-32. PubMed ID: 22593002
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