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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 …
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.
In humans, four ABC transporters classified as subfamily D have been identified. ABCD1-3 are localized to peroxisomal membranes and involved in the transport of various acyl-CoAs from the cytosol to the peroxisomal lumen. ...The mutation of genes encoding ABCD1, ABCD3, and …
In humans, four ABC transporters classified as subfamily D have been identified. ABCD1-3 are localized to peroxisomal membranes and i …
Bile acid synthetic defects and liver disease: a comprehensive review.
Bove KE, Heubi JE, Balistreri WF, Setchell KD. Bove KE, et al. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):315-34. doi: 10.1007/s10024-002-1201-8. Epub 2004 Jul 15. Pediatr Dev Pathol. 2004. PMID: 15383928 Review.
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. ...The course of BASD may be modified by repla
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent
Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
Colombo C, Okolicsanyi L, Strazzabosco M. Colombo C, et al. Dig Liver Dis. 2000 Mar;32(2):152-9. doi: 10.1016/s1590-8658(00)80403-x. Dig Liver Dis. 2000. PMID: 10975791 Review.
Diagnosis of Alagille syndrome, a condition that should be suspected in all patients with unexplained cholestasis, will thus be confirmed by genetic analysis for mutations of JAG1. In children with cholestasis and low serum bile acid levels, an inborn error of bi
Diagnosis of Alagille syndrome, a condition that should be suspected in all patients with unexplained cholestasis, will thus be confirmed by …
Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis.
Zimniak P. Zimniak P. Semin Liver Dis. 1993 Aug;13(3):248-60. doi: 10.1055/s-2007-1007353. Semin Liver Dis. 1993. PMID: 8235715 Review.
Corollary effects include, at least in rats, a reduction of bile acid-independent bile flow due to the inhibition of biliary GSH transport by accumulating substrates of the defective transporter. ...The discoloration is due to deposition of a pigment f …
Corollary effects include, at least in rats, a reduction of bile acid-independent bile flow due to the inhibition of bi …
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
Bile acids.
Whiting MJ. Whiting MJ. Adv Clin Chem. 1986;25:169-232. doi: 10.1016/s0065-2423(08)60126-2. Adv Clin Chem. 1986. PMID: 3521214 Review. No abstract available.
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Korneenko TV, Pestov NB, Okkelman IA, Modyanov NN, Shakhparonov MI. Korneenko TV, et al. Bioorg Khim. 2015 Jan-Feb;41(1):3-12. doi: 10.1134/s1068162015010070. Bioorg Khim. 2015. PMID: 26050466 Review. Russian.
Isoforms of P4-ATP-ases are partially interchangeable but peculiarities of tissue-specific expression of their genes, intracellular localization of proteins, as well as regulatory pathways lead to the fact that, on the organismal level, serious pathologies may develop in the pres …
Isoforms of P4-ATP-ases are partially interchangeable but peculiarities of tissue-specific expression of their genes, intracellular localiza …