Literature DB >> 11196112

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

K H Carpente1, B Wilcken, J Christodoulou, D R Thorburn.   

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Year:  2000        PMID： 11196112     DOI： 10.1023/a:1026721021233

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro.

Authors:  T Suormala; B Fowler; M Duran; A Burtscher; A Fuchshuber; R Tratzmüller; M J Lenze; K Raab; B Baur; H Wick; R Baumgartner
Journal:  Pediatr Res       Date:  1997-05       Impact factor: 3.756
  1 in total
  1 in total

Review 1.  Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Authors:  Sahan P Semasinghe Bandaralage; Soheil Farnaghi; Joel M Dulhunty; Alka Kothari
Journal:  Pediatr Radiol       Date:  2016-01-11
  1 in total

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