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Journal Abstract Search

149 related items for PubMed ID: 3783319

  • 1. Multiple carboxylase deficiency due to deficiency of biotinidase.
    Thuy LP, Zielinska B, Zammarchi E, Pavari E, Vierucci A, Sweetman F, Sweetman L, Nyhan WL.
    J Neurogenet; 1986 Nov; 3(6):357-63. PubMed ID: 3783319
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  • 2. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.
    Campana G, Valentini G, Legnaioli MI, Giovannucci-Uzielli ML, Pavari E.
    Ophthalmic Paediatr Genet; 1987 Jun; 8(2):125-9. PubMed ID: 3658339
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  • 6. [Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].
    Schweitzer S, Sander J, Suormala T, Baumgartner R, Byrd DJ, Brodehl J.
    Monatsschr Kinderheilkd; 1991 Jun; 139(6):349-54. PubMed ID: 1896047
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  • 7. Biotinidase deficiency: result of treatment with biotin from age 12 years.
    Casado de Frías E, Campos-Castelló J, Careaga Maldonado J, Pérez Cerdá C.
    Eur J Paediatr Neurol; 1997 Jun; 1(5-6):173-6. PubMed ID: 10728214
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  • 11. Neonatal screening for biotinidase deficiency in north eastern Italy.
    Burlina AB, Sherwood WG, Marchioro MV, Bernardina BD, Gaburro D.
    Eur J Pediatr; 1988 Apr; 147(3):317-8. PubMed ID: 3391228
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  • 12. Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
    Baumgartner ER, Suormala T.
    Int J Vitam Nutr Res; 1997 Apr; 67(5):377-84. PubMed ID: 9350481
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  • 13. Multiple carboxylase deficiency.
    Nyhan WL.
    Int J Biochem; 1988 Apr; 20(4):363-70. PubMed ID: 3284772
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  • 14. Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
    Holme E, Jacobson CE, Kristiansson B.
    J Inherit Metab Dis; 1988 Apr; 11(3):270-6. PubMed ID: 3148068
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  • 15. [Biotinidase deficiency: a congenital metabolic disease which can be successfully treatment with vitamin H].
    Nothjunge J, Krägeloh-Mann I, Suormala TM, Baumgartner ER.
    Monatsschr Kinderheilkd; 1989 Nov; 137(11):737-40. PubMed ID: 2608075
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