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Journal Abstract Search

197 related items for PubMed ID: 6807281

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

  • 2. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.
    Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R.
    Pediatr Res; 1997 May; 41(5):666-73. PubMed ID: 9128289
    [Abstract] [Full Text] [Related]

  • 3. 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; 68(1):113-8. PubMed ID: 6787561
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.
    Feldman GL, Hsia YE, Wolf B.
    Am J Hum Genet; 1981 Sep 26; 33(5):692-701. PubMed ID: 6794361
    [Abstract] [Full Text] [Related]

  • 6. 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 Sep 26; 5(2):67-8. PubMed ID: 6133032
    [No Abstract] [Full Text] [Related]

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

  • 8. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
    Sherwood WG, Saunders M, Robinson BH, Brewster T, Gravel RA.
    J Pediatr; 1982 Oct 26; 101(4):546-50. PubMed ID: 6811711
    [Abstract] [Full Text] [Related]

  • 9. Deficient acetyl CoA carboxylase activity in multiple carboxylase deficiency.
    Feldman GL, Wolf B.
    Clin Chim Acta; 1981 Apr 09; 111(2-3):147-51. PubMed ID: 6112081
    [Abstract] [Full Text] [Related]

  • 10. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
    Burri BJ, Sweetman L, Nyhan WL.
    Am J Hum Genet; 1985 Mar 09; 37(2):326-37. PubMed ID: 3920902
    [Abstract] [Full Text] [Related]

  • 11. Prenatal treatment of multiple carboxylase deficiency.
    Roth KS.
    Ann N Y Acad Sci; 1985 Mar 09; 447():263-71. PubMed ID: 3925857
    [No Abstract] [Full Text] [Related]

  • 12. Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
    Munnich A, Saudubray JM, Coude FX, Charpentier C, Saurat JH, Frezal J.
    Lancet; 1980 May 17; 1(8177):1080-1. PubMed ID: 6103410
    [No Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency.
    Roth KS, Yang W, Allan L, Saunders M, Gravel RA, Dakshinamurti K.
    Pediatr Res; 1982 Feb 15; 16(2):126-9. PubMed ID: 6799930
    [Abstract] [Full Text] [Related]

  • 15. Enzyme studies in biotin-responsive disorders.
    Bartlett K, Ghneim HK, Stirk HJ, Wastell H.
    J Inherit Metab Dis; 1985 Feb 15; 8 Suppl 1():46-52. PubMed ID: 2864473
    [Abstract] [Full Text] [Related]

  • 16. Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
    Baumgartner ER, Suormala T, Wick H, Bonjour JP.
    J Inherit Metab Dis; 1984 Feb 15; 7 Suppl 2():123-5. PubMed ID: 6434862
    [No Abstract] [Full Text] [Related]

  • 17. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
    Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C.
    Am J Hum Genet; 1984 Jan 15; 36(1):80-92. PubMed ID: 6141728
    [Abstract] [Full Text] [Related]

  • 18. Enzyme studies in combined carboxylase deficiency.
    Bartlett K, Ghneim HK, Stirk JH, Wastell HJ, Sherratt HS, Leonard JV.
    Ann N Y Acad Sci; 1985 Jan 15; 447():235-51. PubMed ID: 2861780
    [No Abstract] [Full Text] [Related]

  • 19. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.
    Saunders ME, Sherwood WG, Duthie M, Surh L, Gravel RA.
    Am J Hum Genet; 1982 Jul 15; 34(4):590-601. PubMed ID: 7102675
    [Abstract] [Full Text] [Related]

  • 20. Biotin in clinical medicine--a review.
    Roth KS.
    Am J Clin Nutr; 1981 Sep 15; 34(9):1967-74. PubMed ID: 6116428
    [Abstract] [Full Text] [Related]

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