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Glycogen Storage Disease type 1a – a secondary cause for hyperlipidemia: report of five cases

BACKGROUND AND AIMS: Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disorder, caused by deficient activity of glucose-6-phosphatase-α. It produces fasting induced hypoglycemia and hepatomegaly, usually manifested in the first semester of life. Besides, it is also associated with growt...

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Detalles Bibliográficos
Autores principales: Carvalho, Patrícia Margarida Serra, Silva, Nuno José Marques Mendes, Dias, Patrícia Glória Dinis, Porto, João Filipe Cordeiro, Santos, Lèlita Conceição, Costa, José Manuel Nascimento
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937210/
https://www.ncbi.nlm.nih.gov/pubmed/23738826
http://dx.doi.org/10.1186/2251-6581-12-25