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
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy
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DOI: 10.4103/aian.aian_1108_20
Abstract: We report a newborn born to a consanguineous couple with antenatally detected dilatation of third ventricle, unilateral talipes, and intra uterine growth retardation. On examination, there was facial dysmorphism, hypotonia, encephalopathy, joint laxity and muscle… read more here.
Keywords: blended phenotype; infant blended; muscular dystrophy; congenital muscular ... See more keywords