Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome
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DOI: 10.1002/jcb.29945
Abstract: The peroxisome is responsible for a variety of vital pathways in primary metabolism, including the very long‐chain fatty‐acid oxidation and plasmalogen lipid biosynthesis. Autosomal recessive disorder of the Zellweger spectrum (ZSD) is a major subset… read more here.
Keywords: study; pex1; arg949trp gly970ala; zellweger ... See more keywords
Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report.
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DOI: 10.1016/j.clinimag.2018.01.008
Abstract: Zellweger syndrome is the most severe form of a group of autosomal recessive disorders with defective peroxisomes. We report a case of Zellweger syndrome in a newborn baby, which was first suspected by the presence… read more here.
Keywords: syndrome newborn; diagnosis; case; scimitar like ... See more keywords
The Nitric Oxide Donor, S-Nitrosoglutathione, Rescues Peroxisome Number and Activity Defects in PEX1G843D Mild Zellweger Syndrome Fibroblasts
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DOI: 10.3389/fcell.2021.714710
Abstract: Peroxisome biogenesis disorders (PBDs) are a group of metabolic developmental diseases caused by mutations in one or more genes encoding peroxisomal proteins. Zellweger syndrome spectrum (PBD-ZSS) results from metabolic dysfunction caused by damaged or non-functional… read more here.
Keywords: peroxisome number; pbd zss; oxide donor; zss ... See more keywords
Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.852943
Abstract: Background Zellweger syndrome (ZS) is a congenital autosomal recessive disease within the spectrum of peroxisome biogenesis disorders, characterized by the impairment of peroxisome assembly. The presence of peroxisome enzyme deficiencies leads to complex developmental sequelae,… read more here.
Keywords: immunodeficiency; case; report zellweger; case report ... See more keywords