• Media type: E-Article
  • Title: JIMD Reports: Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation
  • Contributor: Slavin, T. P.; Zaidi, S. J.; Neal, C.; Nishikawa, B.; Seaver, L. H.
  • imprint: Springer International Publishing, 2013
  • Published in: JIMD Reports
  • Language: Not determined
  • DOI: 10.1007/8904_2013_252
  • ISSN: 2192-8304; 2192-8312
  • Origination:
  • Footnote:
  • Access State: Open Access