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Molecular diagnosis of glycogen storage disease type I: a review

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib). We searched the most...

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Detalles Bibliográficos
Autores principales: Beyzaei, Zahra, Geramizadeh, Bita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Leibniz Research Centre for Working Environment and Human Factors 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449677/
https://www.ncbi.nlm.nih.gov/pubmed/30956637