Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review
Objective: To summarize the clinical features and genetic characteristics of Congenital bile acid synthetic disorder type 3 (BASD3) disorder caused by CYP7B1 gene variation. Methods: This was a case series study. Clinical data and genetic results of 2 cases of congenital bile acid synthetic disorder...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 9 vom: 02. Sept., Seite 877-882
|
|---|
| 1. Verfasser: |
Wang, C H
(VerfasserIn) |
|---|
| Weitere Verfasser: |
Lu, M,
Zhao, J,
Huang, B Q,
Ye, P P,
Wang, J S |
|---|
| Format: | Online-Aufsatz
|
|---|
| Sprache: | Chinese |
|---|
| Veröffentlicht: |
2024
|
|---|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
|---|
| Schlagworte: | Journal Article
Case Reports
Review
English Abstract
Bile Acids and Salts
CYP7B1 protein, human
EC 1.14.14.29
Cytochrome P450 Family 7
EC 1.14.14.23
Steroid Hydroxylases
EC 1.14.- |
|---|