IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme (EC 2.7.7.12). The cause of the long-term complications, including neurological, cognitive and fertility problems in females, remains poorly...

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Bibliografische gegevens
Gepubliceerd in:JIMD Rep
Hoofdauteurs: Stockmann, Henning, Coss, Karen P., Rubio-Gozalbo, M. Estela, Knerr, Ina, Fitzgibbon, Maria, Maratha, Ashwini, Wilson, James, Rudd, Pauline, Treacy, Eileen P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864864/
https://ncbi.nlm.nih.gov/pubmed/26419375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_490
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