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Journal Abstract Search

116 related items for PubMed ID: 7264799

  • 1. Biotin-responsive multiple carboxylase deficiency of infantile onset.
    Packman S, Sweetman L, Yoshino M, Baker H, Cowan M.
    J Pediatr; 1981 Sep; 99(3):421-3. PubMed ID: 7264799
    [No Abstract] [Full Text] [Related]

  • 2. The neonatal form of biotin-responsive multiple carboxylase deficiency.
    Packman S, Sweetman L, Baker H, Wall S.
    J Pediatr; 1981 Sep; 99(3):418-20. PubMed ID: 7264798
    [No Abstract] [Full Text] [Related]

  • 3. Biotinidase deficiency in juvenile multiple carboxylase deficiency.
    Thoene J, Wolf B.
    Lancet; 1983 Aug 13; 2(8346):398. PubMed ID: 6135890
    [No Abstract] [Full Text] [Related]

  • 4. The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
    Wolf B, Raetz H.
    Clin Chim Acta; 1983 May 09; 130(1):25-30. PubMed ID: 6851181
    [Abstract] [Full Text] [Related]

  • 5. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
    Narisawa K, Arai N, Igarashi Y, Satoh T, Tada K, Hirooka Y.
    J Inherit Metab Dis; 1982 May 09; 5(2):67-8. PubMed ID: 6133032
    [No Abstract] [Full Text] [Related]

  • 6. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
    Burri BJ, Sweetman L, Nyhan WL.
    J Clin Invest; 1981 Dec 09; 68(6):1491-5. PubMed ID: 6798072
    [Abstract] [Full Text] [Related]

  • 7. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
    Bartlett K, Ng H, Leonard JV.
    Clin Chim Acta; 1980 Jan 15; 100(2):183-6. PubMed ID: 6766095
    [Abstract] [Full Text] [Related]

  • 8. Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.
    Williams ML, Packman S, Cowan MJ.
    J Am Acad Dermatol; 1983 Jul 15; 9(1):97-103. PubMed ID: 6886110
    [Abstract] [Full Text] [Related]

  • 9. Prenatal treatment of biotin responsive multiple carboxylase deficiency.
    Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H.
    Lancet; 1982 Jun 26; 1(8287):1435-8. PubMed ID: 6123722
    [No Abstract] [Full Text] [Related]

  • 10. Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
    Packman S, Caswell NM, Baker H.
    Biochem Genet; 1982 Feb 26; 20(1-2):17-28. PubMed ID: 6807281
    [Abstract] [Full Text] [Related]

  • 11. Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
    Erasmus C, Mienie LJ, Reinecke CJ, Wadman SK.
    J Inherit Metab Dis; 1985 Feb 26; 8 Suppl 2():105-6. PubMed ID: 3930851
    [No Abstract] [Full Text] [Related]

  • 12. Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
    Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW.
    Ann Neurol; 1980 Nov 26; 8(5):544-7. PubMed ID: 7436398
    [Abstract] [Full Text] [Related]

  • 13. Biotin-responsive beta-methylcrotonylglycinuria.
    Gompertz D, Draffan GH, Watts JL, Hull D.
    Lancet; 1971 Jul 03; 2(7714):22-4. PubMed ID: 4103667
    [No Abstract] [Full Text] [Related]

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  • 16. A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
    Thompson GN, Bresson JL, Bonnefont JP, Walter JH, Read MA, Saudubray JM, Leonard JV, Halliday D.
    J Inherit Metab Dis; 1990 Jul 03; 13(3):349-51. PubMed ID: 2122099
    [No Abstract] [Full Text] [Related]

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  • 19. Phenotypic variation in biotinidase deficiency.
    Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL, Parker WD, Howell DM, Hurst DL.
    J Pediatr; 1983 Aug 03; 103(2):233-7. PubMed ID: 6875714
    [Abstract] [Full Text] [Related]

  • 20. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.
    Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL.
    Pediatrics; 1981 Jul 03; 68(1):113-8. PubMed ID: 6787561
    [Abstract] [Full Text] [Related]

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