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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...
Autores principales: | Sakai, Wataru, Yoshikawa, Yusuke, Tokinaga, Yasuyuki, Yamakage, Michiaki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813674/ https://www.ncbi.nlm.nih.gov/pubmed/29492447 http://dx.doi.org/10.1186/s40981-017-0080-y |
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