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- W44704230 abstract "Journal of Inherited Metabolic DiseaseVolume 22, Issue 8 p. 936-937 Article Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib D. M. Neele, D. M. Neele Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorC. M. F. Kneepkens, C. M. F. Kneepkens Department of Pediatrics, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorN. M. Verhoeven, N. M. Verhoeven Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorC. Jakobs, C. Jakobs Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this author D. M. Neele, D. M. Neele Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorC. M. F. Kneepkens, C. M. F. Kneepkens Department of Pediatrics, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorN. M. Verhoeven, N. M. Verhoeven Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this authorC. Jakobs, C. Jakobs Department of Clinical Chemistry, Metabolic Unit, Free University Hospital Amsterdam, Amsterdam, The NetherlandsSearch for more papers by this author First published: 01 December 1999 https://doi.org/10.1023/A:1005699725822Citations: 2AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Koning TJ, Dorland L, Diggelen OP et al (1998) A novel disorder of N–glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun, {245}: 38–42. 2Freeze HH (1998) Disorders in protein glycosylation and potential therapy: tip of an iceberg?. J Pediatr, {133}: 593–600. 3Niehues R, Hasilik M, Alton G et al (1998) Carbohydrate–deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest, {101}: 1414–1420. Citing Literature Volume22, Issue8December 1999Pages 936-937 ReferencesRelatedInformation" @default.
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- W44704230 title "Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib" @default.
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