Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn

J Pediatr Endocrinol Metab. 2016 Mar;29(3):389-90. doi: 10.1515/jpem-2015-0387.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Neoplasms / drug therapy*
  • Neoplasms / pathology
  • Prognosis
  • Prospective Studies
  • Survival Rate
  • Young Adult