Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, pr...

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Detalles Bibliográficos
Autores principales: Bose, Mousumi, Yergeau, Christine, D’Souza, Yasmin, Cuthbertson, David D., Lopez, Melisa J., Smolen, Alyssa K., Braverman, Nancy E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9221082/
https://www.ncbi.nlm.nih.gov/pubmed/35741019
http://dx.doi.org/10.3390/cells11121891

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