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Journal Abstract Search


147 related items for PubMed ID: 9590053

  • 1. [Mevalonic aciduria].
    Yoshida I.
    Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):305-9. PubMed ID: 9590053
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  • 2. Novel genotype of mevalonic aciduria with fatalities in premature siblings.
    Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM.
    Arch Dis Child Fetal Neonatal Ed; 2004 Jan; 89(1):F90-1. PubMed ID: 14711867
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  • 3. Allogeneic bone marrow transplantation in mevalonic aciduria.
    Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A.
    N Engl J Med; 2007 Jun 28; 356(26):2700-3. PubMed ID: 17596604
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  • 4. Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency.
    Gibson KM, Stellaard F, Hoffmann GF, Rating D, Hrebicek M, Jakobs C.
    Clin Chim Acta; 1993 Aug 31; 217(2):217-20. PubMed ID: 8261631
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  • 9. Mevalonic acidemia: first case of Japan.
    Okamoto N, Nakayama M, Narahara C, Kim H, Fujioka M, Imada I, Arai T, Toda S.
    Jpn J Hum Genet; 1997 Sep 31; 42(3):441-4. PubMed ID: 12503192
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  • 10. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
    Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM.
    Am J Med Genet; 1998 Aug 06; 78(5):408-12. PubMed ID: 9714005
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  • 11. Mevalonic aciduria.
    Hoffman G.
    Hepatology; 1988 Aug 06; 8(1):197. PubMed ID: 3338715
    [No Abstract] [Full Text] [Related]

  • 12. Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.
    Gibson KM, Hoffmann GF, Sweetman L, Buckingham B.
    J Inherit Metab Dis; 1997 Jul 06; 20(3):391-4. PubMed ID: 9266363
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  • 13. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.
    Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K.
    Pediatrics; 1993 May 06; 91(5):915-21. PubMed ID: 8386351
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  • 14. First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
    Rolland MO, Cuisset L, Le Bozec J, Guffon N, Vianey-Saban C.
    J Inherit Metab Dis; 2005 May 06; 28(6):1141-2. PubMed ID: 16435209
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