Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants

Pediatr Int. 2020 Mar;62(3):417-418. doi: 10.1111/ped.14110.
No abstract available

Keywords: MOGS; congenital disorder of glycosylation; whole exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / blood
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Echocardiography, Three-Dimensional / methods
  • Exome Sequencing
  • Fatal Outcome
  • Glycosylation
  • Humans
  • Infant
  • Male
  • Mutation
  • alpha-Glucosidases / genetics*

Substances

  • glucosidase I
  • alpha-Glucosidases