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Congenital disorders of glycosylation: new defects and still counting

Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present as clinical syndromes, affecting multiple systems including the central nervous system, muscle function, transport, regulation, immu...

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Bibliografiska uppgifter
Huvudupphovsmän: Scott, Kyle, Gadomski, Therese, Kozicz, Tamas, Morava, Eva
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4141334/
https://ncbi.nlm.nih.gov/pubmed/24831587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9720-9
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