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Journal Abstract Search

121 related items for PubMed ID: 117238

  • 1. Prenatal diagnosis and a case report of isovaleric acidaemia.
    Blaskovics ME, Ng WG, Donnell GN.
    J Inherit Metab Dis; 1978; 1(1):9-11. PubMed ID: 117238
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  • 3. Acute neonatal isovaleric acidemia. A report of two cases.
    Spirer Z, Swirsky-Fein S, Zakut V, Legum C, Bogair N, Charles R, Gil-Av E.
    Isr J Med Sci; 1975 Oct; 11(10):1005-10. PubMed ID: 1193830
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  • 6. A new case of prenatal diagnosis of isovaleric acidaemia.
    Dumoulin R, Divry P, Mandon G, Mathieu M.
    Prenat Diagn; 1991 Dec; 11(12):921-2. PubMed ID: 1805197
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  • 7. [Isovaleric acidemia and beta-hydroxyisovaleric aciduria].
    Hidaka T.
    Nihon Rinsho; 1978 May; Suppl():1360-1. PubMed ID: 691355
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  • 11. Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.
    Tanaka K, Mandell R, Shih VE.
    J Clin Invest; 1976 Jul; 58(1):164-72. PubMed ID: 932204
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  • 14. Isovaleric acidemia: a new genetic defect of leucine metabolism.
    Tanaka K, Budd MA, Efron ML, Isselbacher KJ.
    Proc Natl Acad Sci U S A; 1966 Jul; 56(1):236-42. PubMed ID: 5229850
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  • 15. Isovaleric acidaemia in two South African children.
    Malan C, Neethling AC, Shanley BC, Gompertz D, Bartlett K, Schraader EB.
    S Afr Med J; 1977 Jun 25; 51(26):980-3. PubMed ID: 888034
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  • 19. Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.
    Duran M, Bruinvis L, Ketting D, Wadman SK, van Pelt BC, Batenburg-Plenter AM.
    J Inherit Metab Dis; 1982 Jun 25; 5(2):125-7. PubMed ID: 6820423
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