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Journal Abstract Search

137 related items for PubMed ID: 9645049

  • 1. [Vitamin B1 dependency].
    Kuroda Y, Naito E.
    Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):225-8. PubMed ID: 9645049
    [No Abstract] [Full Text] [Related]

  • 2. Thiamine-responsive inborn errors of metabolism.
    Duran M, Wadman SK.
    J Inherit Metab Dis; 1985; 8 Suppl 1():70-5. PubMed ID: 3930844
    [Abstract] [Full Text] [Related]

  • 3. [Maple syrup urine disease].
    Indo Y, Matsuda I.
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):201-4. PubMed ID: 9590028
    [No Abstract] [Full Text] [Related]

  • 4. [Maple syrup urine disease].
    Indo Y.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():783-7. PubMed ID: 12013999
    [No Abstract] [Full Text] [Related]

  • 5. Thiamine response in maple syrup urine disease.
    Fernhoff PM, Lubitz D, Danner DJ, Dembure PP, Schwartz HP, Hillman R, Bier DM, Elsas LJ.
    Pediatr Res; 1985 Oct; 19(10):1011-6. PubMed ID: 3903643
    [Abstract] [Full Text] [Related]

  • 6. [Maple syrup urine disease].
    Matsuda I.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):585-8. PubMed ID: 3270867
    [No Abstract] [Full Text] [Related]

  • 7. The role of thiamin in maple syrup urine disease.
    Elsas LJ, Danner DJ.
    Ann N Y Acad Sci; 1982 Apr; 378():404-21. PubMed ID: 7044230
    [No Abstract] [Full Text] [Related]

  • 8. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N, Carmi R.
    Hum Mutat; 1998 Apr; 12(2):136. PubMed ID: 10694918
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. [Increasing the effectiveness of thiamine by its administration together with methionine and vitamin E].
    Parkhomenko IuM, Chernysh IIu, Protasova ZS, Donchenko GV.
    Vopr Pitan; 1992 Mar; (1):45-8. PubMed ID: 1621378
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
    Di Rocco M, Lamba LD, Minniti G, Caruso U, Naito E.
    Eur J Paediatr Neurol; 2000 Aug; 4(3):115-7. PubMed ID: 10872106
    [Abstract] [Full Text] [Related]

  • 13. Biochemical basis of thiamin-responsive maple syrup urine disease.
    Chuang DT, Ku LS, Cox RP.
    Trans Assoc Am Physicians; 1982 Aug; 95():196-204. PubMed ID: 7182976
    [Abstract] [Full Text] [Related]

  • 14. Maple syrup urine disease 1954 to 1993.
    Peinemann F, Danner DJ.
    J Inherit Metab Dis; 1994 Aug; 17(1):3-15. PubMed ID: 8051937
    [No Abstract] [Full Text] [Related]

  • 15. A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.
    Indo Y, Kitano A, Akaboshi I, Endo F, Matsuda I.
    J Inherit Metab Dis; 1987 Aug; 10(3):281-3. PubMed ID: 3123794
    [No Abstract] [Full Text] [Related]

  • 16. Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients.
    Burgos C, Civallero GE, de Kremer RD, Gerez de Burgos NM, Blanco A.
    Acta Physiol Pharmacol Ther Latinoam; 1999 Aug; 49(2):109-17. PubMed ID: 10797848
    [Abstract] [Full Text] [Related]

  • 17. Maple syrup urine disease: clinical and biochemical significance of gene analysis.
    Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Matsuda I.
    J Inherit Metab Dis; 1991 Aug; 14(5):787-92. PubMed ID: 1664011
    [No Abstract] [Full Text] [Related]

  • 18. Enzyme assays with mutant cell lines of maple syrup urine disease.
    Chuang DT, Cox RP.
    Methods Enzymol; 1988 Aug; 166():135-46. PubMed ID: 3071697
    [No Abstract] [Full Text] [Related]

  • 19. Maple syrup urine disease: metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy.
    Felber SR, Sperl W, Chemelli A, Murr C, Wendel U.
    Ann Neurol; 1993 Apr; 33(4):396-401. PubMed ID: 8489211
    [Abstract] [Full Text] [Related]

  • 20. Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients.
    Love-Gregory LD, Grasela J, Hillman RE, Phillips CL.
    Mol Genet Metab; 2002 Jan; 75(1):79-90. PubMed ID: 11825067
    [Abstract] [Full Text] [Related]

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