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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32918
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dc.contributor.authorFletcher, J.-
dc.contributor.authorMatthijs, G.-
dc.contributor.authorJaeken, J.-
dc.contributor.authorVan Schaftingen, E.-
dc.contributor.authorNelson, P.-
dc.date.issued2000-
dc.identifier.citationJournal of Inherited Metabolic Disease, 2000; 23(4):396-398-
dc.identifier.issn0141-8955-
dc.identifier.issn1573-2665-
dc.identifier.urihttp://hdl.handle.net/2440/32918-
dc.description.abstractWe report two siblings with carbohydrate-deficient glycoprotein syndrome (CDG) type 1 (McKusick 212065) secondary to phosphomannomutase deficiency, both of whom have repeatedly normal transferrin isoform screening tests.-
dc.description.statementofresponsibilityJ. M. Fletcher, G. Matthijs, J. Jaeken, E. Van Schaftingen and P. V. Nelson-
dc.language.isoen-
dc.publisherKluwer Academic Publ-
dc.source.urihttp://dx.doi.org/10.1023/a:1005660004047-
dc.subjectCells, Cultured-
dc.subjectFibroblasts-
dc.subjectHumans-
dc.subjectPhosphotransferases (Phosphomutases)-
dc.subjectTransferrin-
dc.subjectIsoelectric Focusing-
dc.subjectChild-
dc.subjectInfant-
dc.subjectFemale-
dc.subjectbeta-N-Acetylhexosaminidases-
dc.subjectCongenital Disorders of Glycosylation-
dc.titleCarbohydrate-deficient glycoprotein syndrome: Beyond the screen-
dc.typeJournal article-
dc.identifier.doi10.1023/A:1005660004047-
pubs.publication-statusPublished-
Appears in Collections:Aurora harvest
Paediatrics publications

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