Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature

BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogen...

Descripción completa

Detalles Bibliográficos
Autores principales: Beyzaei, Zahra, Geramizadeh, Bita, Karimzadeh, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034/
https://www.ncbi.nlm.nih.gov/pubmed/33054851
http://dx.doi.org/10.1186/s13023-020-01573-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557034/
https://www.ncbi.nlm.nih.gov/pubmed/33054851
http://dx.doi.org/10.1186/s13023-020-01573-8

Ejemplares similares