Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene

Balkan Med J. 2022 May 24;39(3):220-221. doi: 10.4274/balkanmedj.galenos.2022.2022-1-72. Epub 2022 Apr 28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chondroitinsulfatases* / genetics
  • Humans
  • Infant
  • Male
  • Mucopolysaccharidosis IV* / genetics
  • Mutation

Substances

  • Chondroitinsulfatases
  • GALNS protein, human