Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand

Autor:	Wamelink, M. M.C., Starreveld, J. S., Van Der Knaap, M. S., Verhoeven, N. M., Jakobs, C.
Jazyk:	Dutch; Flemish
Rok vydání:	2003
Předmět:	carbohydrates (lipids) congenital hereditary and neonatal diseases and abnormalities animal structures lipids (amino acids peptides and proteins) macromolecular substances
Zdroj:	Wamelink, M M C, Starreveld, J S, Van Der Knaap, M S, Verhoeven, N M & Jakobs, C 2003, ' Een zuigeling met 'failure to thrive' en ontwikkelingsachterstand ', Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, vol. 28, no. 6, pp. 363-367 .
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od_____10172::6dd7d8cf119d3bd6e8709cfb4d2b8c7d https://research.vumc.nl/en/publications/419c1b82-b952-4bb7-87b2-56310084a427 Zobrazit plný text záznamu