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A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Purpose: Glycogen storage disease type IV (GSD IV) has historically been divided into discrete hepatic (classic hepatic, non-progressive hepatic) and neuromuscular (perinatal-congenital neuromuscular, juvenile neuromuscular) subtypes. However, the extent to which this subtype-based classification sy...

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Detalles Bibliográficos
Autores principales: Kiely, Bridget T., Koch, Rebecca L., Flores, Leticia, Burner, Danielle, Kaplan, Samantha, Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513518/
https://www.ncbi.nlm.nih.gov/pubmed/36176296
http://dx.doi.org/10.3389/fgene.2022.992406