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Journal Abstract Search

161 related items for PubMed ID: 36874425

  • 1. Diagnosis of an intermediate case of maple syrup urine disease: A case report.
    Lin YT, Cai YN, Ting TH, Liu L, Zeng CH, Su L, Peng MZ, Li XZ.
    World J Clin Cases; 2023 Feb 16; 11(5):1077-1085. PubMed ID: 36874425
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  • 6. 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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  • 8. Variant maple syrup urine disease (MSUD)--the entire spectrum.
    Simon E, Flaschker N, Schadewaldt P, Langenbeck U, Wendel U.
    J Inherit Metab Dis; 2006 Dec 01; 29(6):716-24. PubMed ID: 17063375
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  • 9. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
    Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH.
    World J Pediatr; 2020 Aug 01; 16(4):401-410. PubMed ID: 32193832
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  • 11. Successful domino liver transplantation in maple syrup urine disease using a related living donor.
    Feier FH, Miura IK, Fonseca EA, Porta G, Pugliese R, Porta A, Schwartz IV, Margutti AV, Camelo JS, Yamaguchi SN, Taveira AT, Candido H, Benavides M, Danesi V, Guimaraes T, Kondo M, Chapchap P, Neto JS.
    Braz J Med Biol Res; 2014 Jun 01; 47(6):522-6. PubMed ID: 24770567
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  • 14. Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
    Nguyen TTN, Vu CD, Nguyen NL, Nguyen TTH, Nguyen NK, Nguyen HH.
    Mol Genet Genomic Med; 2020 Aug 01; 8(8):e1337. PubMed ID: 32515140
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  • 15. Maple syrup urine disease: magnetic resonance imaging findings in three patients.
    Allahwala A, Ahmed S, Afroze B.
    J Pak Med Assoc; 2021 Apr 01; 71(4):1309-1313. PubMed ID: 34125801
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  • 16. 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 01; 28(5-6):673-5. PubMed ID: 25381949
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  • 18. 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 May 01; 41(2):167-73. PubMed ID: 21844576
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  • 20. Case report: maple syrup urine disease with a novel DBT gene mutation.
    Feng W, Jia J, Guan H, Tian Q.
    BMC Pediatr; 2019 Dec 13; 19(1):494. PubMed ID: 31830945
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