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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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Detaylı Bibliyografya
Yayımlandı:JA Clin Rep
Asıl Yazarlar: Sakai, Wataru, Yoshikawa, Yusuke, Tokinaga, Yasuyuki, Yamakage, Michiaki
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2017
Konular:
Online Erişim: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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