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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Research Paper
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados