Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review [PDF]
Cells, 2022 Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity.
Mousumi Bose +6 more
doaj +4 more sources
Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review [PDF]
Frontiers in Pediatrics, 2021 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.
Kai Chen +7 more
doaj +4 more sources
AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder [PDF]
Molecular Therapy: Methods & Clinical Development, 2021 Patients with Zellweger spectrum disorder (ZSD) commonly present with vision loss due to mutations in PEX genes required for peroxisome assembly and function.
Catherine Argyriou +12 more
doaj +4 more sources
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review [PDF]
Molecular Genetics and Metabolism Reports, 2020 Defects in PEX3 are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of PEX3-related disease. Genome sequencing
Whiwon Lee +6 more
doaj +4 more sources
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling [PDF]
Genetics in Medicine OpenPurpose: Zellweger Spectrum Disorder (ZSD) is a rare syndromic disorder characterized by impaired peroxisome assembly and function. Many cases are due to pathogenic variants in the PEX1 gene and are inherited in an autosomal recessive manner.
Karen E. Malone +3 more
doaj +4 more sources
Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder [PDF]
Case Reports in Gastroenterology, 2023 Zellweger spectrum disorders (ZSDs) are known to present with variable hepatic manifestations ranging from benign hepatosplenomegaly and elevated liver enzymes to advanced liver cirrhosis with hepatocellular carcinoma.
Mark Hsu, Amith Subhash
doaj +2 more sources
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy [PDF]
Annals of Indian Academy of Neurology, 2021 We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation.
Priyanka Gupta +3 more
doaj +2 more sources
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder [PDF]
Molecular Genetics and Metabolism Reports, 2021 Background: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused
Natalia A. Semenova +5 more
doaj +2 more sources
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers [PDF]
Molecular Genetics and Metabolism Reports, 2020 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
Mousumi Bose +10 more
doaj +2 more sources
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report [PDF]
Journal of Medical Case Reports, 2017 Background The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders.
Maria Blomqvist +4 more
doaj +2 more sources