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Journal Abstract Search

152 related items for PubMed ID: 4730202

  • 21. Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
    Silao CL, Padilla CD, Matsuo M.
    Pediatr Int; 2008 Jun; 50(3):312-4. PubMed ID: 18533943
    [Abstract] [Full Text] [Related]

  • 22. Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis.
    Potashnik R, Carmi R, Sofer S, Bashan N, Abeliovich D.
    Isr J Med Sci; 1987 Aug; 23(8):886-9. PubMed ID: 3679791
    [Abstract] [Full Text] [Related]

  • 23. M aple syrup urine disease. A review with a report of an additional case.
    Schwartz JF, Kolendrianos ET.
    Dev Med Child Neurol; 1969 Aug; 11(4):460-70. PubMed ID: 5805351
    [No Abstract] [Full Text] [Related]

  • 24. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
    Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT.
    J Clin Invest; 1995 Mar; 95(3):954-63. PubMed ID: 7883996
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Prospective study of maple-syrup-urine disease for the first four days of life.
    DiGeorge AM, Rezvani I, Garibaldi LR, Schwartz M.
    N Engl J Med; 1982 Dec 09; 307(24):1492-5. PubMed ID: 7144815
    [No Abstract] [Full Text] [Related]

  • 27. [Maple syrup urine disease and cystathioninemia].
    Simma B, Sperl W, Berger H.
    Padiatr Padol; 1989 Dec 09; 24(1):69-75. PubMed ID: 2497426
    [Abstract] [Full Text] [Related]

  • 28. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP.
    Mol Biol Med; 1991 Feb 09; 8(1):49-63. PubMed ID: 1943690
    [Abstract] [Full Text] [Related]

  • 29. [Maple syrup urine disease. (Valine-leucine-uria)].
    Platt D, Beneke G, Peiffer J, Schmidt GW.
    Med Welt; 1966 May 07; 19():1089-93. PubMed ID: 5974899
    [No Abstract] [Full Text] [Related]

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  • 31. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
    Oyarzabal A, Martínez-Pardo M, Merinero B, Navarrete R, Desviat LR, Ugarte M, Rodríguez-Pombo P.
    Hum Mutat; 2013 Feb 07; 34(2):355-62. PubMed ID: 23086801
    [Abstract] [Full Text] [Related]

  • 32. Semiquantitation of leucine, isoleucine, and valine by thin-layer chromatography in management of maple-syrup urine diseases.
    Allen RJ, Frey HJ, Fleming LM, Owings CL.
    Clin Chem; 1972 May 07; 18(5):413-6. PubMed ID: 5019114
    [No Abstract] [Full Text] [Related]

  • 33. [Intermittent maple syrup urine disease in a 12-year-old boy: clinical aspects, diagnosis and treatment].
    Fritsch G, Langenbeck U, Wendel U, Lehnert W, Palm W, Steger W.
    Klin Padiatr; 1983 May 07; 195(5):351-4. PubMed ID: 6632715
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  • 36. Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.
    Skaper SD, Molden DP, Seegmiller JE.
    Biochem Genet; 1976 Aug 07; 14(7-8):527-39. PubMed ID: 985377
    [Abstract] [Full Text] [Related]

  • 37. [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 Aug 07; 11(1):65-8. PubMed ID: 17965467
    [Abstract] [Full Text] [Related]

  • 38. 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 Aug 07; 45(5):287-9. PubMed ID: 15868812
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  • 40. [Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children].
    Kowalik A, Narojek L, Sykut-Cegielska J.
    Rocz Panstw Zakl Hig; 2007 Aug 07; 58(1):95-101. PubMed ID: 17711097
    [Abstract] [Full Text] [Related]

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