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Journal Abstract Search

198 related items for PubMed ID: 33955723

  • 1. Molecular basis of various forms of maple syrup urine disease in Chilean patients.
    Campanholi DRR, Margutti AVB, Silva WA, Garcia DF, Molfetta GA, Marques AA, Schwartz IVD, Cornejo V, Hamilton V, Castro G, Sperb-Ludwig F, Borges ES, Camelo JS.
    Mol Genet Genomic Med; 2021 May; 9(5):e1616. PubMed ID: 33955723
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  • 2. Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
    Margutti AVB, Silva WA, Garcia DF, de Molfetta GA, Marques AA, Amorim T, Prazeres VMG, Boy da Silva RT, Miura IK, Seda Neto J, Santos ES, Santos MLSF, Lourenço CM, Tonon T, Sperb-Ludwig F, de Souza CFM, Schwartz IVD, Camelo JS.
    Orphanet J Rare Dis; 2020 Nov 01; 15(1):309. PubMed ID: 33131499
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  • 4. 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 01; 58(9):471-8. PubMed ID: 26257134
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  • 7. 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 01; 106(4):412-8. PubMed ID: 22727569
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  • 9. Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
    Narayanan MP, Menon KN, Vasudevan DM.
    Indian J Biochem Biophys; 2013 Oct 01; 50(5):442-6. PubMed ID: 24772966
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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 01; 63(6):103901. PubMed ID: 32151765
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