title: Presentation of congenital disorders of glycosylation type 1a.
abstract: This case outlines a classic presentation of the most common type of a recently categorized set of disorders known as congenital disorders of glycosylation.
authors.affiliation: Section of General Academic Pediatrics, Department of Pediatrics, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
authors.forename: Hillary E
authors.initials: HE
authors.lastname: Lockemer
authors.forename: John W
authors.initials: JW
authors.lastname: Harrington
mesh_terms: 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
chemical_list: D009844:Oligosaccharides; D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase