Cargando…
Heterozygous individuals with mild phenotype in late-onset glycogen storage disease type 2: a new cohort of patients?
Autores principales: | Vercelli, L, Vittonatto, E, Grifoni, S, Chiadò-Piat, L, Rolle, E, Spada, M, Danesino, C, Comi, G, Mongini, T |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667063/ http://dx.doi.org/10.1186/1471-2474-14-S2-P12 |
Ejemplares similares
-
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)
por: Violano, R, et al.
Publicado: (2013) -
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
por: De Filippi, Paola, et al.
Publicado: (2023) -
The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa
por: Qu, Qianqian, et al.
Publicado: (2020) -
Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)
por: Zhang, Huiting, et al.
Publicado: (2022) -
Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging
por: Lyo, Shawn, et al.
Publicado: (2020)