An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa

S Afr Med J. 2001 May;91(5):392-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blindness / etiology
  • Congenital Disorders of Glycosylation / blood*
  • Congenital Disorders of Glycosylation / classification
  • Congenital Disorders of Glycosylation / complications
  • Congenital Disorders of Glycosylation / diagnosis*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / etiology
  • Isoelectric Focusing
  • Seizures / etiology
  • South Africa
  • Transferrin / metabolism

Substances

  • Transferrin