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Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

BACKGROUND: Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions. Congenital disorders of glycosylation (CDGs) are very rare genetic disorders that lack enzymes needed for glycosylation. Phosphomannomutas...

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Bibliografske podrobnosti
izdano v:JA Clin Rep
Main Authors: Sakai, Wataru, Yoshikawa, Yusuke, Tokinaga, Yasuyuki, Yamakage, Michiaki
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5813674/
https://ncbi.nlm.nih.gov/pubmed/29492447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40981-017-0080-y
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