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Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE. Heubi JE, et al. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266156 Review.
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. ...Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder wi …
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and a …
Peroxisomal ABC Transporters: An Update.
Tawbeh A, Gondcaille C, Trompier D, Savary S. Tawbeh A, et al. Int J Mol Sci. 2021 Jun 5;22(11):6093. doi: 10.3390/ijms22116093. Int J Mol Sci. 2021. PMID: 34198763 Free PMC article. Review.
They possess overlapping but specific substrate specificity, allowing the transport of various lipids into the peroxisomal matrix. The defects of ABCD1 and ABCD3 are responsible for two genetic disorders called X-linked adrenoleukodystrophy and congenital bile
They possess overlapping but specific substrate specificity, allowing the transport of various lipids into the peroxisomal matrix. The de
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.
Kawaguchi K, Imanaka T. Kawaguchi K, et al. Chem Pharm Bull (Tokyo). 2022;70(8):533-539. doi: 10.1248/cpb.c21-01021. Chem Pharm Bull (Tokyo). 2022. PMID: 35908918 Free article. Review.
The mutation of genes encoding ABCD1, ABCD3, and ABCD4 are responsible for genetic diseases called X-linked adrenoleukodystrophy, congenital bile acid synthesis defect 5, and cobalamin deficiency, respectively. ...
The mutation of genes encoding ABCD1, ABCD3, and ABCD4 are responsible for genetic diseases called X-linked adrenoleukodystrophy, congeni
Bile salt diarrhea.
Robb BW, Matthews JB. Robb BW, et al. Curr Gastroenterol Rep. 2005 Oct;7(5):379-83. doi: 10.1007/s11894-005-0007-z. Curr Gastroenterol Rep. 2005. PMID: 16168236 Review.
Bile acid diarrhea most often occurs in disease or resection of the terminal ileum, in which there is increased exposure of the colonic mucosa to bile salts with consequent activation of fluid and electrolyte secretion. Congenital or acquired
Bile acid diarrhea most often occurs in disease or resection of the terminal ileum, in which there is increased exposure of th
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH. Wang HH, et al. World J Gastroenterol. 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. World J Gastroenterol. 2018. PMID: 30254413 Free PMC article. Review.
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. ...We descr …
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile