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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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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | 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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