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Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .
Infantile Refsum disease (IRD) is a rare autosomal recessive [2] congenital peroxisomal biogenesis disorder within the Zellweger spectrum.These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [ 2 ] important for peroxisome function or in peroxins , proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders, [9] such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births. [10]
The Bedford Veterans Affairs Medical Center, also known as the Edith Nourse Rogers Memorial Veterans Hospital, is a medical facility of the United States Department of Veterans Affairs (VA) at 200 Springs Road in Bedford, Massachusetts. Its campus once consisted of about 276 acres (112 ha) of land, which had by 2012 been reduced to 179 acres ...
A mood disorder spectrum [31] or bipolar spectrum [2] or depressive spectrum. [32] These approaches have expanded out in different directions. On the one hand, work on major depressive disorder has identified a spectrum of subcategories and sub-threshold symptoms that are prevalent, recurrent and associated with treatment needs. People are ...
Renée Zellweger (born 1969), Academy Award-winning American film actress; Shea Zellweger (1925–2022), American educator; Furthermore, the name Zellweger may refer to: Zellweger off-peak, the brand-name of an electric switching device; Zellweger syndrome, a rare congenital disorder; Zellweger spectrum disorders, a group of rare disorders
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