Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'

J Inherit Metab Dis. 1984:7 Suppl 2:159-60. doi: 10.1007/978-94-009-5612-4_54.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Epilepsy / enzymology*
  • Humans
  • Hypogonadism / enzymology*
  • Ichthyosis / enzymology*
  • Male
  • Olfaction Disorders / enzymology
  • Steryl-Sulfatase
  • Sulfatases / deficiency*
  • Syndrome

Substances

  • Sulfatases
  • Steryl-Sulfatase