Literature DB >> 6122961

Mechanism of biotin-responsive combined carboxylase deficiency.

H K Ghneim, K Bartlett.   

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Year:  1982        PMID: 6122961     DOI: 10.1016/s0140-6736(82)92253-x

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  6 in total

Review 1.  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

2.  Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Authors:  A León-Del-Rio; D Leclerc; B Akerman; N Wakamatsu; R A Gravel
Journal:  Proc Natl Acad Sci U S A       Date:  1995-05-09       Impact factor: 11.205

3.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency.

Authors:  T Suormala; H Wick; J P Bonjour; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1985-05       Impact factor: 3.183

5.  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

6.  Biotinidase deficiency: factors responsible for the increased biotin requirement.

Authors:  E R Baumgartner; T Suormala; H Wick; J Bausch; J P Bonjour
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

  6 in total

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