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Journal Abstract Search

398 related items for PubMed ID: 20307994

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  • 24. 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; 143(1-2):108569. PubMed ID: 39270351
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  • 26. [Maple syrup urine disease of neonates: report of two cases and review of literature].
    Chen Z, Luo F, Wu XJ, Shi LP.
    Zhonghua Er Ke Za Zhi; 2010 Sep; 48(9):680-4. PubMed ID: 21092528
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  • 29. Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
    Henneke M, Flaschker N, Helbling C, Müller M, Schadewaldt P, Gärtner J, Wendel U.
    Hum Mutat; 2003 Nov; 22(5):417. PubMed ID: 14517957
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  • 30. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria).
    Naylor EW, Guthrie R.
    Pediatrics; 1978 Feb; 61(2):262-6. PubMed ID: 416414
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  • 31. Living related versus deceased donor liver transplantation for maple syrup urine disease.
    Feier F, Schwartz IV, Benkert AR, Seda Neto J, Miura I, Chapchap P, da Fonseca EA, Vieira S, Zanotelli ML, Pinto e Vairo F, Camelo JS, Margutti AV, Mazariegos GV, Puffenberger EG, Strauss KA.
    Mol Genet Metab; 2016 Mar; 117(3):336-43. PubMed ID: 26786177
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  • 32. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
    Alijanpour M, Jazayeri O, Soleimani Amiri S, Brosens E.
    Lab Med; 2022 Nov 03; 53(6):596-601. PubMed ID: 35657820
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  • 35. Implications of Maple Syrup Urine Disease in Newborns.
    Harris-Haman P, Brown L, Massey S, Ramamoorthy S.
    Nurs Womens Health; 2017 Nov 03; 21(3):196-206. PubMed ID: 28599741
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  • 36. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Nov 03; 43(2):91-100. PubMed ID: 9621512
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  • 37. 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 03; 58(9):471-8. PubMed ID: 26257134
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  • 39. Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
    Fingerhut R.
    Eur J Pediatr; 2009 May 03; 168(5):599-604. PubMed ID: 18682982
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  • 40. [Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)].
    Couce Pico ML, Castiñeiras Ramos DE, Bóveda Fontán MD, Iglesias Rodríguez AJ, Cocho de Juan JA, Fraga Bermúdez JM.
    An Pediatr (Barc); 2007 Oct 03; 67(4):337-43. PubMed ID: 17949643
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