PMM2-CDG and sensorineural hearing loss

J Inherit Metab Dis. 2017 Sep;40(5):629-630. doi: 10.1007/s10545-017-0073-z. Epub 2017 Jul 31.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anthropometry
  • Audiometry
  • Brain Stem
  • Child, Preschool
  • Congenital Disorders of Glycosylation / complications
  • Congenital Disorders of Glycosylation / genetics*
  • Evoked Potentials, Auditory*
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Phosphotransferases (Phosphomutases) / deficiency*
  • Phosphotransferases (Phosphomutases) / genetics

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human

Supplementary concepts

  • Congenital disorder of glycosylation type 1A