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Journal Abstract Search

333 related items for PubMed ID: 26453840

  • 1. 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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  • 3. Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
    Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, Lee SY, Kim JW, Ki CS, Lee YW.
    Ann Clin Lab Sci; 2011 Nov; 41(2):167-73. PubMed ID: 21844576
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  • 4. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
    Miryounesi M, Ghafouri-Fard S, Goodarzi H, Fardaei M.
    J Pediatr Endocrinol Metab; 2015 May; 28(5-6):673-5. PubMed ID: 25381949
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  • 6. 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; 58(9):471-8. PubMed ID: 26257134
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  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Strauss KA, Puffenberger EG, Carson VJ.
    ; 1993 Sep. PubMed ID: 20301495
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  • 11. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.
    Ali EZ, Ngu LH.
    Mol Genet Metab Rep; 2018 Dec; 17():22-30. PubMed ID: 30228974
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  • 12. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
    Fang X, Zhu X, Feng Y, Bai Y, Zhao X, Liu N, Kong X.
    Sci Rep; 2021 Sep 23; 11(1):18939. PubMed ID: 34556729
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  • 14. Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
    Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD.
    Mol Genet Metab; 2024 Sep 23; 143(1-2):108569. PubMed ID: 39270351
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  • 15. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
    Yang J, Xiu J, Sun Y, Liu F, Shang X, Li G.
    J Pediatr Endocrinol Metab; 2022 Mar 28; 35(3):303-312. PubMed ID: 34883003
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  • 17. Analysis of gene mutations in Chinese patients with maple syrup urine disease.
    Yang N, Han L, Gu X, Ye J, Qiu W, Zhang H, Gong Z, Zhang Y.
    Mol Genet Metab; 2012 Aug 28; 106(4):412-8. PubMed ID: 22727569
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  • 19. Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
    Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F.
    J Pediatr Endocrinol Metab; 2021 Sep 27; 34(9):1147-1156. PubMed ID: 34187135
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  • 20. Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.
    Tammachote R, Tongkobpetch S, Desudchit T, Suphapeetiporn K, Shotelersuk V.
    J Inherit Metab Dis; 2009 Dec 27; 32 Suppl 1():S33-6. PubMed ID: 19240989
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