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Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
Seki Y, Mizuochi T, Kimura A, Takahashi T, Ohtake A, Hayashi S, Morimura T, Ohno Y, Hoshina T, Ihara K, Takei H, Nittono H, Kurosawa T, Homma K, Hasegawa T, Matsuishi T. Seki Y, et al. Among authors: nittono h. J Inherit Metab Dis. 2013 May;36(3):565-73. doi: 10.1007/s10545-012-9526-6. Epub 2012 Nov 16. J Inherit Metab Dis. 2013. PMID: 23160874
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: nittono h. Medicine (Baltimore). 2022 Jun 24;101(25):e29476. doi: 10.1097/MD.0000000000029476. Medicine (Baltimore). 2022. PMID: 35758383 Free PMC article.
Use of dried urine spots for screening of inborn errors of bile acid synthesis.
Naritaka N, Suzuki M, Takei H, Chen HL, Oh SH, Kaewplang P, Zhang C, Murai T, Kurosawa T, Kimura A, Shimizu T, Nittono H. Naritaka N, et al. Among authors: nittono h. Pediatr Int. 2019 May;61(5):489-494. doi: 10.1111/ped.13852. Epub 2019 May 15. Pediatr Int. 2019. PMID: 30921489 Clinical Trial.
190 results