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- Q5203306 subject Q8758575.
- Q5203306 abstract "D-Bifunctional protein deficiency (officially called 17-β-hydroxysteroid dehydrogenase IV deficiency) is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell. Peroxisomes contain many different enzymes, such as catalase, and their main function is to neutralize free radicals and detoxify drugs, such as alcohol. For this reason peroxisomes are ubiquitous in the liver and kidney. D-BP deficiency is the most severe peroxisomal disorder, often resembling Zellweger syndrome.Characteristics of the disorder include neonatal hypotonia and seizures, occurring mostly within the first month of life, as well as visual and hearing impairment. Other symptoms include severe craniofacial disfiguration, psychomotor delay, and neuronal migration defects. Most onsets of the disorder begin in the gestational weeks of development and most affected individuals die within the first two years of life.".
- Q5203306 icd10 "E80.3".
- Q5203306 omim "261515".
- Q5203306 wikiPageWikiLink Q1186703.
- Q5203306 wikiPageWikiLink Q1269290.
- Q5203306 wikiPageWikiLink Q138639.
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- Q5203306 wikiPageWikiLink Q14849060.
- Q5203306 wikiPageWikiLink Q1753547.
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- Q5203306 wikiPageWikiLink Q188928.
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- Q5203306 wikiPageWikiLink Q28775.
- Q5203306 wikiPageWikiLink Q310425.
- Q5203306 wikiPageWikiLink Q3281322.
- Q5203306 wikiPageWikiLink Q373027.
- Q5203306 wikiPageWikiLink Q413288.
- Q5203306 wikiPageWikiLink Q420599.
- Q5203306 wikiPageWikiLink Q483261.
- Q5203306 wikiPageWikiLink Q5437988.
- Q5203306 wikiPageWikiLink Q61476.
- Q5203306 wikiPageWikiLink Q6531938.
- Q5203306 wikiPageWikiLink Q6589727.
- Q5203306 wikiPageWikiLink Q8047.
- Q5203306 wikiPageWikiLink Q83330.
- Q5203306 wikiPageWikiLink Q8758575.
- Q5203306 icd "E80.3".
- Q5203306 name "D-bifunctional protein deficiency".
- Q5203306 omim "261515".
- Q5203306 type Disease.
- Q5203306 type Thing.
- Q5203306 type Q12136.
- Q5203306 comment "D-Bifunctional protein deficiency (officially called 17-β-hydroxysteroid dehydrogenase IV deficiency) is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes. The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell.".
- Q5203306 label "D-bifunctional protein deficiency".
- Q5203306 name "D-bifunctional protein deficiency".