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Congenital bile acid synthesis defect

MedGen UID:
1826069
Concept ID:
C5680095
Disease or Syndrome
Synonyms: BASD; bile acid synthesis defect, congenital; CBA; congenital bile acid synthesis defect
 
Monarch Initiative: MONDO:0018841
OMIM® Phenotypic series: PS607765
Orphanet: ORPHA485631

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital bile acid synthesis defect

Professional guidelines

PubMed

Fang Y, Zhang Z, Zhao Y, Sun G, Peng M, Liu C, Yi G, Zhao K, Yang H
Clin Chim Acta 2023 Apr 1;544:117330. Epub 2023 Apr 8 doi: 10.1016/j.cca.2023.117330. PMID: 37037297
Miyano T, Yamashiro Y, Shimizu T, Arai T, Suruga T, Hayasawa H
J Pediatr Surg 1986 Mar;21(3):277-81. doi: 10.1016/s0022-3468(86)80854-5. PMID: 3083086
Sherlock S
Br Med J 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. PMID: 4971054Free PMC Article

Recent clinical studies

Diagnosis

Pham AN, Thi KB, Thi MN, Ngo DN, Naritaka N, Nittono H, Hayashi H, Dao TT, Nguyen KT, Nguyen HN, Giang H, Tang HS, Nguyen TT, Truong DK, Tran MD
Medicine (Baltimore) 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476. PMID: 35758383Free PMC Article
Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH
World J Gastroenterol 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. PMID: 30254413Free PMC Article

Therapy

Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH
World J Gastroenterol 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. PMID: 30254413Free PMC Article

Supplemental Content

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    Clinical resources

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