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Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers

Zellweger spectrum disorders (ZSD) are rare, debilitating genetic diseases of peroxisome biogenesis that affect multiple organ systems and present with broad clinical heterogeneity. Although many case studies have characterized the multitude of signs and symptoms associated with ZSD, there are few r...

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Detalles Bibliográficos
Autores principales: Bose, Mousumi, Cuthbertson, David D., Fraser, Marsha A., Roullet, Jean-Baptiste, Gibson, K. Michael, Schules, Dana R., Gawron, Kelly M., Gamble, Melissa B., Sacra, Kathryn M., Lopez, Melisa J., Rizzo, William B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733019/
https://www.ncbi.nlm.nih.gov/pubmed/33335840
http://dx.doi.org/10.1016/j.ymgmr.2020.100694