Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand

Translated title of the contribution: An infant with failure to thrive and developmental delay

M. M.C. Wamelink, J. S. Starreveld, M. S. Van Der Knaap, N. M. Verhoeven*, C. Jakobs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders with a defect in protein glycosylation. Since the discovery of the phosphomannomutase-deficiency causing CDG-Ia in 1995, 17 different defects in protein glycosylation have been described, 13 with a defect in the N-glycosylation and 4 with a defect in the O-glycosylation. The different types of CDG are clinically very distinct, which makes it extra difficult to diagnose these patients. We present a case of a typical CDG-Ia patient.

Translated title of the contributionAn infant with failure to thrive and developmental delay
Original languageDutch
Pages (from-to)363-367
Number of pages5
JournalNederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde
Volume28
Issue number6
Publication statusPublished - Nov 2003

Cite this