MPI-CDG with transient hypoglycosylation and antithrombin deficiency

Haematologica. 2019 Feb;104(2):e79-e82. doi: 10.3324/haematol.2018.211326. Epub 2018 Dec 13.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Antithrombins / blood*
  • Biopsy
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / therapy
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Glycosylation
  • Humans
  • Intestines / pathology
  • Male
  • Mannose-6-Phosphate Isomerase / genetics*
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype*

Substances

  • Antithrombins
  • Mannose-6-Phosphate Isomerase