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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540825/
https://www.ncbi.nlm.nih.gov/pubmed/28794993
http://dx.doi.org/10.1016/j.ymgmr.2017.07.010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540825/
https://www.ncbi.nlm.nih.gov/pubmed/28794993
http://dx.doi.org/10.1016/j.ymgmr.2017.07.010

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