Peroxisomal disorder (original) (raw)

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dbo:abstract Les maladies péroxysomales sont des maladies génétiques en rapport avec une anomalie du métabolisme des enzymes contenus dans le péroxysome (fr) Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. (en)
dbo:eMedicineSubject neuro (en)
dbo:eMedicineTopic 309 (en)
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dbo:thumbnail wiki-commons:Special:FilePath/Peroxisome.svg?width=300
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dbo:wikiPageWikiLink dbr:HSD17B4 dbr:Alkylglycerone_phosphate_synthase dbr:Rhizomelic_chondrodysplasia_punctata dbr:D-bifunctional_protein_deficiency dbr:Infantile_Refsum_disease dbr:PEX14 dbr:TRIM37 dbr:PEX6 dbr:Medical_genetics dbr:Acyl-CoA_oxidase_deficiency dbr:Heimler_syndrome dbr:PEX13 dbr:Acatalasia dbr:Adrenoleukodystrophy dbr:AGXT dbr:AMACR dbr:ABCD1 dbr:ACOX1 dbc:Organelles dbc:Peroxisomal_disorders dbr:Zellweger_syndrome dbr:Phytanic_acid dbr:Pipecolic_acidemia dbr:DHAPAT dbr:Neonatal_adrenoleukodystrophy dbr:Catalase dbr:ICD-10 dbr:PEX10 dbr:Mulibrey_nanism dbr:PEX12 dbr:PEX5 dbr:Peroxin dbr:Peroxisome dbr:Retinopathy dbr:PEX1 dbr:PEX2 dbr:PEX26 dbr:PEX3 dbr:Hyperoxaluria_type_1 dbr:ICD-10_NA dbr:PEX7 dbr:PHYH dbr:GNPAT dbr:Plasmalogens dbr:Refsum's_disease dbr:Very_long_chain_fatty_acids dbr:OMIM dbr:Dihydroxyacetonephosphate_acyltransferase_deficiency dbr:Α-Methylacyl-CoA_racemase_deficiency
dbp:caption Basic structure of a peroxisome (en)
dbp:emedicinesubj neuro (en)
dbp:emedicinetopic 309 (xsd:integer)
dbp:field dbr:Medical_genetics
dbp:icd 277.860000 (xsd:double) (en) E80.3 (en)
dbp:meshid D018901 (en)
dbp:name Peroxisomal disorder (en)
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rdfs:comment Les maladies péroxysomales sont des maladies génétiques en rapport avec une anomalie du métabolisme des enzymes contenus dans le péroxysome (fr) Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis. (en)
rdfs:label Maladie de la fonction peroxysomale (fr) Peroxisomal disorder (en)
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foaf:name Peroxisomal disorder (en)
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