Diarrhoea, Hypoalbuminaemia, Hepatomegaly, Hypoglycaemia and Coagulopathy? Check for MPI-CDG!

Πηγή: Педиатрия. Восточная Европа. :129-142

Θεματικοί όροι: 0301 basic medicine, 0303 health sciences, diarrhea, гипопротеинемия, hypoalbuminemia, CDG-1b, коагулопатия, 3. Good health, coagulopathy, 03 medical and health sciences, hypoglycemia, диарея, MPI-CDG, наследственные нарушения гликозилирования, гипогликемия, congenital disorders of glycosylation

Hereditary Deficiency of Beta-1,4-Mannosyltransferase (ALG1-CDG) is a Rare Violation of N-Glycosylation: Observation of Three Cases of the Disease in One Family

Πηγή: Педиатрия. Восточная Европа. :21-35

Θεματικοί όροι: 0301 basic medicine, ALG1-CDG, 03 medical and health sciences, CDG-1k, наследственные нарушения гликозилирования, hereditary glycosylation disorders, 3. Good health