先天性胆汁酸合成缺陷

别名

胆汁酸合成缺陷

相关基因 4来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 14L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 14 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-06
  Abstract
  JPGN reports
• 2026-02病例报告开放获取
  Significance of Genetic Testing in Diagnosing Cholestatic Disease in Infants
  Cureus · DOI · Europe PMC
• 2025-12开放获取
  Molecular mechanism of substrate transport by human peroxisomal ABCD3
  Proceedings of the National Academy of Sciences of the United States o · DOI · Europe PMC
• 2025-12病例报告
  Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
  American journal of medical genetics. Part A · DOI · Europe PMC
• 2025-09病例报告开放获取
  Pediatric Liver Transplant Complications: EBV-Associated Tumors and Infection Management Strategies
  The American journal of case reports · DOI · Europe PMC
• 2025-09病例报告
  Varied phenotypic presentation of congenital bile acid synthesis defect type 2 in a set of first-degree relatives with the same genetic mutation
  BMJ case reports · DOI · Europe PMC
• 2025-05开放获取
  Genomic Exploration of Nonalcoholic Fatty Liver Disease: Insights From Gene Expression and Variation in Morbidly Obese Individuals
  Journal of obesity · 被引 3 · DOI · Europe PMC
• 2025-05系统综述开放获取
  Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
  Journal of inherited metabolic disease · 被引 6 · DOI · Europe PMC
• 2025-01开放获取
  A Structural Bioinformatics-Guided Study of Adenosine Triphosphate-Binding Cassette (ABC) Transporters and Their Substrates
  Membranes · DOI · Europe PMC
• 2024-11
  Abstracts of HAEMATOCON 2024 : The 65th Annual Conference of Indian Society of Haematology and Blood Transfusion (7th-10th November 2024, Nagpur)
  Indian journal of hematology & blood transfusion : an official journal
• 2024-09开放获取
  Analysis of Serum Bile Acid Profile Characteristics and Identification of New Biomarkers in Lean Metabolic Dysfunction-Associated Fatty Liver Disease Based on LC-MS/MS
  Clinical medicine insights. Endocrinology and diabetes · 被引 1 · DOI · Europe PMC
• 2024-08开放获取
  Effect of Gegen Qinlian Decoction on the regulation of gut microbiota and metabolites in type II diabetic rats
  Frontiers in microbiology · 被引 4 · DOI · Europe PMC
• 2024-08综述开放获取
  5β-Dihydrosteroids: Formation and Properties
  International journal of molecular sciences · 被引 15 · DOI · Europe PMC
• 2024-08开放获取
  Core biomarkers analysis benefit for diagnosis on human intrahepatic cholestasis of pregnancy
  BMC pregnancy and childbirth · 被引 1 · DOI · Europe PMC

外部标识与链接