Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypo...

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Detalles Bibliográficos
Autores principales: Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974180/
https://www.ncbi.nlm.nih.gov/pubmed/24646511
http://dx.doi.org/10.1186/1824-7288-40-30

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974180/
https://www.ncbi.nlm.nih.gov/pubmed/24646511
http://dx.doi.org/10.1186/1824-7288-40-30

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