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Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.
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. Pham AN, et al. Among authors: ngo dn. Medicine (Baltimore). 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476. Medicine (Baltimore). 2022. PMID: 35758383 Free PMC article.
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
Lam WY, Tang CS, So MT, Yue H, Hsu JS, Chung PH, Nicholls JM, Yeung F, Lee CD, Ngo DN, Nguyen PAH, Mitchison HM, Jenkins D, O'Callaghan C, Garcia-Barceló MM, Lee SL, Sham PC, Lui VC, Tam PK. Lam WY, et al. Among authors: ngo dn. EBioMedicine. 2021 Sep;71:103530. doi: 10.1016/j.ebiom.2021.103530. Epub 2021 Aug 27. EBioMedicine. 2021. PMID: 34455394 Free PMC article.
35 results