Literature DB >> 6782477

Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.

J Thoene, H Baker, M Yoshino, L Sweetman.   

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Year:  1981        PMID: 6782477     DOI: 10.1056/NEJM198104023041404

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  13 in total

1.  Erythematous skin lesions and partial deficiency of 3-methylcrotonyl-CoA carboxylase in peripheral lymphocytes in a patient with propionic acidaemia.

Authors:  M Yoshino; S Aramaki; F Yamashita; K Sato; Y Inoue; T Kuhara; I Matsumoto
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 2.  The biotin-dependent carboxylase deficiencies.

Authors:  B Wolf; G L Feldman
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

Review 3.  Enzyme studies in biotin-responsive disorders.

Authors:  K Bartlett; H K Ghneim; H J Stirk; H Wastell
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  [Reduction of biotin level as a possible factor in the mode of action of anticonvulsants (author's transl)].

Authors:  K H Krause; P Berlit; J P Bonjour
Journal:  Arch Psychiatr Nervenkr (1970)       Date:  1982

5.  Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Authors:  C Jakobs; L Sweetman; W L Nyhan; S Packman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 6.  Metabolic defects in immunodeficiency diseases.

Authors:  A D Webster
Journal:  Clin Exp Immunol       Date:  1982-07       Impact factor: 4.330

7.  Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.

Authors:  S Packman; N Caswell; M C Gonzalez-Rios; T Kadlecek; H Cann; D Rassin; C McKay
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

8.  Biotin dependency due to a defect in biotin transport.

Authors:  Rebecca Mardach; Janos Zempleni; Barry Wolf; Martin J Cannon; Michael L Jennings; Sally Cress; Jane Boylan; Susan Roth; Stephen Cederbaum; Donald M Mock
Journal:  J Clin Invest       Date:  2002-06       Impact factor: 14.808

9.  Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.

Authors:  B J Burri; L Sweetman; W L Nyhan
Journal:  J Clin Invest       Date:  1981-12       Impact factor: 14.808

10.  Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Authors:  B J Burri; L Sweetman; W L Nyhan
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025

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