- Tytuł:
- Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
- Autorzy:
- Źródło:
- Medicine [Medicine (Baltimore)] 2018 Dec; Vol. 97 (49), pp. e13353.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Adrenoleukodystrophy/*metabolism
Bile Acids and Salts/*biosynthesis
ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics ; Adrenoleukodystrophy/genetics ; Adult ; Cells, Cultured ; Family ; Fibroblasts/metabolism ; Gene Expression ; Humans ; Male
Czasopismo naukowe