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Journal Abstract Search

216 related items for PubMed ID: 16817013

  • 1. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.
    Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U.
    J Inherit Metab Dis; 2006 Aug; 29(4):532-7. PubMed ID: 16817013
    [Abstract] [Full Text] [Related]

  • 2. 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; 109(6):999-1008. PubMed ID: 12042535
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  • 3. 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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  • 4. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
    Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla S, Bóveda MD, Fernández-Marmiesse A, García-Cazorla A.
    Eur J Paediatr Neurol; 2015 Nov; 19(6):652-9. PubMed ID: 26232051
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  • 5. [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 Nov; 11(1):65-8. PubMed ID: 17965467
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  • 12. [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; 67(4):337-43. PubMed ID: 17949643
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  • 13. 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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  • 14. Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
    Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U.
    Nutr J; 2018 May 12; 17(1):51. PubMed ID: 29753318
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  • 15. An early diagnosis leads to a good prognosis: a patient with maple syrup urine disease--screened by tandem mass spectrometry.
    Lin JF, Chiu PC, Hsu HY, Lin SM, Chen YY, Hsieh KS.
    Acta Paediatr Taiwan; 2004 May 12; 45(5):287-9. PubMed ID: 15868812
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  • 16. [Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
    Yang N, Han LS, Ye J, Qiu WJ, Zhang HW, Gao XL, Wang Y, Li XY, Xu H, Gu XF.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2839-42. PubMed ID: 23290213
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  • 17. Neonatal screening for maple syrup urine disease by an enzyme-mediated colorimetric method.
    Wendel U, Gonzales J, Hummel W.
    Clin Chim Acta; 1993 Oct 15; 219(1-2):105-11. PubMed ID: 8306450
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  • 18. Treatment of maple syrup urine disease with high flow hemodialysis in a neonate.
    Aygün F, Kıykım E, Aktuğlu-Zeybek Ç, Zubarioğlu T, Cam H.
    Turk J Pediatr; 2019 Oct 15; 61(1):107-110. PubMed ID: 31559730
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  • 19. [GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE].
    Páez Rojas PL, Suarez Obando F.
    Nutr Hosp; 2015 Jul 01; 32(1):420-5. PubMed ID: 26262748
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  • 20. A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission.
    Kültürsay N, Kütükçüler N, Büyükgebiz B, Kleijer WJ.
    Acta Paediatr Jpn; 1994 Jun 01; 36(3):284-6. PubMed ID: 8091979
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