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Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
Front Genet. 2023 Dec 18;14:1282790. doi: 10.3389/fgene.2023.1282790. eCollection 2023.
Front Genet. 2023.
PMID: 38164512
Free PMC article.
Glucosylsphingosine (Lyso-Gb1): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.
Gayed MM, Jung SH, Huggins E, Rodriguez-Rassi E, DeArmey S, Kishnani PS, Stiles AR.
Gayed MM, et al.
Int J Mol Sci. 2022 Nov 29;23(23):14938. doi: 10.3390/ijms232314938.
Int J Mol Sci. 2022.
PMID: 36499264
Free PMC article.
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