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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Detalhes bibliográficos
Main Authors: Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3974180/
https://ncbi.nlm.nih.gov/pubmed/24646511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-40-30
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