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- D-bifunctional_protein_deficiency 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.".
- D-bifunctional_protein_deficiency icd10 "E80.3".
- D-bifunctional_protein_deficiency omim "261515".
- D-bifunctional_protein_deficiency wikiPageID "10975137".
- D-bifunctional_protein_deficiency wikiPageLength "8645".
- D-bifunctional_protein_deficiency wikiPageOutDegree "29".
- D-bifunctional_protein_deficiency wikiPageRevisionID "682072573".
- D-bifunctional_protein_deficiency wikiPageWikiLink Atomic_mass_unit.
- D-bifunctional_protein_deficiency wikiPageWikiLink Autosome.
- D-bifunctional_protein_deficiency wikiPageWikiLink Bile_acid.
- D-bifunctional_protein_deficiency wikiPageWikiLink C-terminus.
- D-bifunctional_protein_deficiency wikiPageWikiLink Catalase.
- D-bifunctional_protein_deficiency wikiPageWikiLink Category:Peroxisomal_disorders.
- D-bifunctional_protein_deficiency wikiPageWikiLink Demyelinating_disease.
- D-bifunctional_protein_deficiency wikiPageWikiLink Dominance_(genetics).
- D-bifunctional_protein_deficiency wikiPageWikiLink Dysmorphic_feature.
- D-bifunctional_protein_deficiency wikiPageWikiLink Enzyme.
- D-bifunctional_protein_deficiency wikiPageWikiLink Exon.
- D-bifunctional_protein_deficiency wikiPageWikiLink Fatty-acid_metabolism_disorder.
- D-bifunctional_protein_deficiency wikiPageWikiLink Fatty_acid.
- D-bifunctional_protein_deficiency wikiPageWikiLink Frameshift_mutation.
- D-bifunctional_protein_deficiency wikiPageWikiLink HSD17B4.
- D-bifunctional_protein_deficiency wikiPageWikiLink Hypotonia.
- D-bifunctional_protein_deficiency wikiPageWikiLink Intron.
- D-bifunctional_protein_deficiency wikiPageWikiLink Lysosome.
- D-bifunctional_protein_deficiency wikiPageWikiLink Messenger_RNA.
- D-bifunctional_protein_deficiency wikiPageWikiLink Missense_mutation.
- D-bifunctional_protein_deficiency wikiPageWikiLink N-terminus.
- D-bifunctional_protein_deficiency wikiPageWikiLink Nicotinamide_adenine_dinucleotide.
- D-bifunctional_protein_deficiency wikiPageWikiLink Peroxisomal_disorder.
- D-bifunctional_protein_deficiency wikiPageWikiLink Peroxisome.
- D-bifunctional_protein_deficiency wikiPageWikiLink Plasmalogen.
- D-bifunctional_protein_deficiency wikiPageWikiLink Protein_dimer.
- D-bifunctional_protein_deficiency wikiPageWikiLink Transcription_(genetics).
- D-bifunctional_protein_deficiency wikiPageWikiLink Zellweger_syndrome.
- D-bifunctional_protein_deficiency wikiPageWikiLinkText "D-bifunctional protein deficiency".
- D-bifunctional_protein_deficiency diseasesdb "33358".
- D-bifunctional_protein_deficiency icd "E80.3".
- D-bifunctional_protein_deficiency name "D-bifunctional protein deficiency".
- D-bifunctional_protein_deficiency omim "261515".
- D-bifunctional_protein_deficiency wikiPageUsesTemplate Template:Context.
- D-bifunctional_protein_deficiency wikiPageUsesTemplate Template:Infobox_disease.
- D-bifunctional_protein_deficiency wikiPageUsesTemplate Template:Peroxisomal_disorders.
- D-bifunctional_protein_deficiency wikiPageUsesTemplate Template:Reflist.
- D-bifunctional_protein_deficiency subject Category:Peroxisomal_disorders.
- D-bifunctional_protein_deficiency hypernym Disorder.
- D-bifunctional_protein_deficiency type Disease.
- D-bifunctional_protein_deficiency type Defect.
- D-bifunctional_protein_deficiency type Disorder.
- D-bifunctional_protein_deficiency type Page.
- D-bifunctional_protein_deficiency type Redirect.
- D-bifunctional_protein_deficiency type Thing.
- D-bifunctional_protein_deficiency type Q12136.
- D-bifunctional_protein_deficiency 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.".
- D-bifunctional_protein_deficiency label "D-bifunctional protein deficiency".
- D-bifunctional_protein_deficiency sameAs Q5203306.
- D-bifunctional_protein_deficiency sameAs m.02qwx4j.
- D-bifunctional_protein_deficiency sameAs Q5203306.
- D-bifunctional_protein_deficiency wasDerivedFrom D-bifunctional_protein_deficiency?oldid=682072573.
- D-bifunctional_protein_deficiency isPrimaryTopicOf D-bifunctional_protein_deficiency.
- D-bifunctional_protein_deficiency name "D-bifunctional protein deficiency".