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  • Print publication year: 2017
  • Online publication date: April 2017

Chapter 22 - Holocarboxylase Synthetase Deficiency and Biotinidase Deficiency

from Newborn Disorders

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Haagerup, A., Andersen, J.B., Blichfeldt, S., et al. (1997). Biotinidase deficiency: Two cases of very early presentation. Dev Med Child Neurol. 39(12):832–5.
Wolf, B. (2012). Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”. Genet Med. 14(6):565–75.