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Details on Person A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Class:IdLiteratureReference:9987436
_displayNameA novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
_timestamp2026-04-15 21:33:30
author[Person:193458] Ferdinandusse, Sacha
[Person:9987443] Jimenez-Sanchez, Gerardo
[Person:191319] Koster, J
[Person:193396] Denis, Simone
[Person:9987438] Van Roermund, Carlo W
[Person:9987434] Silva-Zolezzi, Irma
[Person:390268] Moser, AB
[Person:389641] Visser, WF
[Person:9987432] Gulluoglu, Mine
[Person:9987429] Durmaz, Ozlem
[Person:9987433] Demirkol, Mubeccel
[Person:191298] Waterham, HR
[Person:9987440] Gökcay, Gülden
[Person:9859048] Wanders, Ronald J A
[Person:70630] Valle, David
created[InstanceEdit:9987445] D'Eustachio, Peter, 2026-04-15
journalHum Mol Genet
modified[InstanceEdit:9987447] D'Eustachio, Peter, 2026-04-15
pages361-70
pubMedIdentifier25168382
titleA novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
volume24
year2015
(literatureReference)[Reaction:192325] 25(R) THCA-CoA is translocated from the cytosol to the peroxisome [Homo sapiens]
[Reaction:193482] 25(R) DHCA-CoA is translocated from the cytosol to the peroxisome [Homo sapiens]
[Reaction:193753] 3,7,24THCA-CoA is translocated from the cytosol to the peroxisome [Homo sapiens]
[Reaction:193761] 25(R) TetraHCA-CoA is translocated from the cytosol to the peroxisome [Homo sapiens]
[CatalystActivityReference:9987430] ATPase-coupled transmembrane transporter activity of ABCD3 dimer [peroxisomal membrane] A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3
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