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

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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Bibliographic Details
Main Authors: Bridget T. Kiely, Rebecca L. Koch, Leticia Flores, Danielle Burner, Samantha Kaplan, Priya S. Kishnani
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
glycogen storage disease type IV
GSD IV
glycogenosis IV
Andersen disease
glycogen branching enzyme
GBE1
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.992406/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.992406/full

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