Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

BACKGROUND: Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients with GSD type 0a, VI, IXa, IXb and IXc. A retrospective evaluation of genetical,...

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Detalles Bibliográficos
Autores principales: Tagliaferri, Francesco, Massese, Miriam, Russo, Luisa, Commone, Anna, Gasperini, Serena, Pretese, Roberta, Dionisi-Vici, Carlo, Maiorana, Arianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295101/
https://www.ncbi.nlm.nih.gov/pubmed/35854365
http://dx.doi.org/10.1186/s13023-022-02431-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295101/
https://www.ncbi.nlm.nih.gov/pubmed/35854365
http://dx.doi.org/10.1186/s13023-022-02431-5

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