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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Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Metab Rep
Huvudupphovsmän: Nolting, Kristine, Park, Julien H., Tegtmeyer, Laura C., Zühlsdorf, Andrea, Grüneberg, Marianne, Rust, Stephan, Reunert, Janine, Du Chesne, Ingrid, Debus, Volker, Schulze-Bahr, Eric, Baxter, Robert C., Wada, Yoshinao, Thiel, Christian, van Schaftingen, Emile, Fingerhut, Ralph, Marquardt, Thorsten
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2017
Ämnen:
Research Paper
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540825/
https://ncbi.nlm.nih.gov/pubmed/28794993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.07.010
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