Results 151 to 160 of about 4,693,382 (193)
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Diagnosis of Peroxisomal Disorders
Journal of Pediatric Neurology online, 2019Dear Editor, we read the recent report by Angurana et al on “Peroxisomal Disorders: Experience from a Genetic Center in North India” with a great interest.1 Angurana et al described that “clinical confirmation is possiblewith simple imaging and ...
B. Joob, V. Wiwanitkit
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Advancement of science
Liver disease poses a significant threat to global public health, with arsenic (As) recognized as a major environmental toxin contributing to liver injury.
Yang-Fei Zhao +9 more
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Liver disease poses a significant threat to global public health, with arsenic (As) recognized as a major environmental toxin contributing to liver injury.
Yang-Fei Zhao +9 more
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Molecular and Cellular Probes, 2018
Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans
R. Wanders
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Peroxisomes catalyze a number of essential metabolic functions of which fatty acid alpha- and beta-oxidation, ether phospholipid biosynthesis, glyoxylate detoxification and bile acid synthesis are the most important. The key role of peroxisomes in humans
R. Wanders
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Current Opinion in Pediatrics, 1999
Peroxisomes, subcellular organelles found in nearly all eukaryotic cells, are involved in numerous biochemical functions within the cell. There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis.
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Peroxisomes, subcellular organelles found in nearly all eukaryotic cells, are involved in numerous biochemical functions within the cell. There has been an increasing understanding of the genetic mechanism of the diseases of the single peroxisomal enzyme abnormalities as well as defects of peroxisome biogenesis.
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The Journal of Pediatrics, 1986
Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling.
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Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling.
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Clinical and Neuroimaging Spectrum of Peroxisomal Disorders
Topics in Magnetic Resonance Imaging (TMRI), 2018Peroxisomes 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.
A. Tan +3 more
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Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders
Journal of Biochemistry (Tokyo), 2018We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools.
P. Subhashini +5 more
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Brain and Development, 1987
The different types of adrenoleukodystrophy are considered with their clinical and biochemical features, particularly the excess of very-long-chain fatty acids. Then other conditions which show this latter finding are described, including the Zellweger cerebrohepatorenal syndrome, hyperpipecolic acidemia and Refsum disease.
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The different types of adrenoleukodystrophy are considered with their clinical and biochemical features, particularly the excess of very-long-chain fatty acids. Then other conditions which show this latter finding are described, including the Zellweger cerebrohepatorenal syndrome, hyperpipecolic acidemia and Refsum disease.
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Peroxisome Biogenesis Disorders
2020Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of ...
Masanori, Honsho +3 more
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Peroxisomes and Peroxisomal Disorders
1989Peroxisomes are organelles that are present in virtually all human cell types. The diameter varies between 0.15 and 1.5 µm. Morphologically peroxisomes are differentiated from mitochondria by their single membrane, electron-dense homogeneous matrix and the absence of cristae and from lysosomes which often contain vacuoles, lipids, myelin figures, or ...
Jacob Valk, Marjo S. van der Knaap
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