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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Research Paper
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars