Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Published 2016 View Full Article

Authors

Keywords

congenital disorder of glycosylation, congenital malformation, cleft palate, bifid uvula, dilated cardiomyopathy, hypoglycemia, myopathy, small stature, hormonal deficiency, coagulopathy, hepatopathy

Journal

JOURNAL OF PEDIATRICS

Volume 175, Issue -, Pages 130-136.e8

Publisher

Elsevier BV

Online

2016-05-18

DOI

10.1016/j.jpeds.2016.04.021

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