Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Introduction: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at...

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Main Authors: Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Glycogenosis
Congenital disorder of glycosylation (CDG)
Phosphoglucomutase 1 (PGM1)
Galactose
Growth retardation
Glycoprotein profile
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426917300873

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