Presentation of congenital disorders of glycosylation type 1a.
This case outlines a classic presentation of the most common type of a recently categorized set of disorders known as congenital disorders of glycosylation.
Lockemer
Hillary E
HE
Section of General Academic Pediatrics, Department of Pediatrics, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Harrington
John W
JW
D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D009844:Oligosaccharides / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D014168:Transferrin / Q000032:analysis* / Q000378:metabolism
D009844:Oligosaccharides; D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase