V Westphal1, G Srikrishna, H H Freeze. Show Affiliations » 1. The Burnham Institute, La Jolla, California 92037, USA.
Abstract
Entities: Chemical
Mesh: See more » Congenital Disorders of Glycosylation/diagnosisCongenital Disorders of Glycosylation/geneticsCongenital Disorders of Glycosylation/therapyGenes, Recessive/geneticsGlycosylationHumansIsoelectric Focusing/methodsMannose/metabolismMannose/therapeutic useMuscle Hypotonia/diagnosisMutation/geneticsOligosaccharides/biosynthesisOligosaccharides/chemistryPsychomotor Disorders/diagnosisTransferrin
Substances: See more » OligosaccharidesTransferrinMannose
Year: 2000 PMID: 11339653 DOI: 10.1097/00125817-200011000-00005
Source DB: PubMed Journal: Genet Med ISSN: 1098-3600 Impact factor: 8.822