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Journal Abstract Search

158 related items for PubMed ID: 2732631

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  • 2. Maple syrup urine disease in Thai infants.
    Pangkanon S, Charoensiriwatana W, Sangtawesin V.
    J Med Assoc Thai; 2008 Oct; 91 Suppl 3():S41-4. PubMed ID: 19255991
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  • 3. Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
    Dennis JA, Healy PJ.
    Res Vet Sci; 1999 Aug; 67(1):1-6. PubMed ID: 10425233
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  • 4. 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
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  • 5. 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
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  • 9. Ophthalmoplegia and bulbar palsy in variant form of maple syrup urine disease.
    Chhabria S, Tomasi LG, Wong PW.
    Ann Neurol; 1979 Jul; 6(1):71-2. PubMed ID: 507761
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  • 12. Maple syrup urine disease. Two cases in Israel.
    Chemke J, Levin S.
    Isr J Med Sci; 1975 Aug; 11(8):809-16. PubMed ID: 1165176
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  • 14. [The intermediate form of maple syrup disease].
    Rittinger O, Bachmann C, Irnberger T, Pilz P, Walter GF, Wendel U, Plöchl E.
    Klin Padiatr; 1986 Aug; 198(1):37-43. PubMed ID: 3959487
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  • 15. 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 Aug; 12(2):136. PubMed ID: 10694918
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  • 19. 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; 28(5-6):673-5. PubMed ID: 25381949
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