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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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 |
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