Literature DB >> 6135890

Biotinidase deficiency in juvenile multiple carboxylase deficiency.

J Thoene, B Wolf.   

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Year:  1983        PMID： 6135890     DOI： 10.1016/s0140-6736(83)90364-1

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


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  10 in total

Review 1.  Biotinidase deficiency: a novel vitamin recycling defect.

Authors:  B Wolf; R E Grier; J R Secor McVoy; G S Heard
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

Review 2.  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

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.  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

5.  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

6.  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

7.  Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.

Authors:  E Holme; C E Jacobson; B Kristiansson
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

8.  Rett syndrome revisited: a patient with biotin dependency.

Authors:  C Bachmann; J Schaub; J P Colombo; B J Burri; L Sweetman; B Wolf
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

9.  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

10.  Biotin and biotinidase deficiency.

Authors:  Janos Zempleni; Yousef I Hassan; Subhashinee Sk Wijeratne
Journal:  Expert Rev Endocrinol Metab       Date:  2008-11-01
  10 in total

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