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Journal Abstract Search

175 related items for PubMed ID: 10394193

  • 1.
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  • 2. Inborn errors of biotin metabolism.
    Nyhan WL.
    Arch Dermatol; 1987 Dec; 123(12):1696-1698a. PubMed ID: 3318710
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  • 5. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
    Pomponio RJ, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton SW, Meyers GA, Reynolds T, Buck G, Nance WE, Wolf B.
    Prenat Diagn; 1998 Feb; 18(2):117-22. PubMed ID: 9516011
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  • 6. Biotinidase deficiency.
    Wolf B, Heard GS.
    Adv Pediatr; 1991 Feb; 38():1-21. PubMed ID: 1927696
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  • 8. Biotinidase deficiency: clinical course and biochemical findings.
    Schubiger G, Caflisch U, Baumgartner R, Suormala T, Bachmann C.
    J Inherit Metab Dis; 1984 Feb; 7(3):129-30. PubMed ID: 6438396
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  • 9. Simon has biotinidase deficiency.
    Monsma M, Chibak M, Eleniak D.
    AARN News Lett; 1988 Nov; 44(10):4-5. PubMed ID: 3195302
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  • 12. Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
    Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S.
    J Inherit Metab Dis; 1990 Nov; 13(1):76-92. PubMed ID: 2109151
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  • 13. Biotinidase deficiency: initial clinical features and rapid diagnosis.
    Wolf B, Heard GS, Weissbecker KA, McVoy JR, Grier RE, Leshner RT.
    Ann Neurol; 1985 Nov; 18(5):614-7. PubMed ID: 4073853
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  • 14. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.
    Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B.
    Nat Genet; 1995 Sep; 11(1):96-8. PubMed ID: 7550325
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  • 16. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
    Wolf B, Spencer R, Gleason T.
    J Pediatr; 2002 Feb; 140(2):242-6. PubMed ID: 11865279
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  • 17. [Results of a pilot study of neonatal screening for congenital biotinidase deficiency].
    Sander J, Niehaus C.
    Monatsschr Kinderheilkd; 1986 Oct; 134(10):729-32. PubMed ID: 3796633
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  • 20. [Biotinidase deficiency. Its form of presentation and response to treatment].
    Campistol J, Vilaseca MA, Ribes A, Riudor E.
    An Esp Pediatr; 1996 Apr; 44(4):389-92. PubMed ID: 8796946
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