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   Articles with "peroxisomal disorders" as a keyword



Plasma lipidomics as a diagnostic tool for peroxisomal disorders

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recommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"

DOI: 10.1007/s10545-017-0114-7

Abstract: Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging… read more here.

Keywords: lipidomics diagnostic; peroxisomal disorders; tool; lipid metabolism ... See more keywords

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

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recommendations! Published in 2017 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2017.05.003

Abstract: Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of… read more here.

Keywords: pristanoyl carnitine; peroxisomal disorders; plasma patients; phytanoyl pristanoyl ... See more keywords
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Clinical and Neuroimaging Spectrum of Peroxisomal Disorders

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recommendations! Published in 2018 at "Topics in Magnetic Resonance Imaging"

DOI: 10.1097/rmr.0000000000000172

Abstract: Abstract Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders… read more here.

Keywords: peroxisomal disorders; spectrum peroxisomal; spectrum; clinical neuroimaging ... See more keywords
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LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

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recommendations! Published in 2021 at "Metabolites"

DOI: 10.3390/metabo11060347

Abstract: Peroxisomes are central hubs for cell metabolism and their dysfunction is linked to devastating human disorders, such as peroxisomal biogenesis disorders and single peroxisomal enzyme/protein deficiencies. For decades, biochemical diagnostics have been carried out using… read more here.

Keywords: peroxisomal disorders; simplifies access; based platform; access metabolomics ... See more keywords