A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental eye research"
DOI: 10.1016/j.exer.2019.107713
Abstract: Zellweger Spectrum Disorder (ZSD) is an autosomal recessive disease caused by mutations in any one of 13 PEX genes whose protein products are required for peroxisome assembly. Retinopathy leading to blindness is one of the… read more here.
Keywords: zellweger spectrum; pex1 gly844asp; spectrum disorder; pex1 ... See more keywords
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2016.03.010
Abstract: We read with interest the article of Rush et al. in which bone health in patients with a Zellweger spectrum disorder (ZSD) was investigated [1]. The authors determined the bone health of 13 patients with… read more here.
Keywords: zellweger spectrum; zsd; bmd; density ... See more keywords
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100694
Abstract: 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… read more here.
Keywords: zellweger spectrum; spectrum disorder; study; prevalence ... See more keywords
Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.672187
Abstract: Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments,… read more here.
Keywords: zellweger spectrum; allogeneic hematopoietic; spectrum disorder; stem cell ... See more keywords