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Quoted phrase not found in phrase index: "Congenital bile acid synthesis defect 3"
Page 1
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 …
Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.
Gonzales E, Matarazzo L, Franchi-Abella S, Dabadie A, Cohen J, Habes D, Hillaire S, Guettier C, Taburet AM, Myara A, Jacquemin E. Gonzales E, et al. Orphanet J Rare Dis. 2018 Oct 29;13(1):190. doi: 10.1186/s13023-018-0920-5. Orphanet J Rare Dis. 2018. PMID: 30373615 Free PMC article.
BACKGROUND: Oral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects, which are rare and severe genetic liver diseases. ...RESULTS: The median age at last follow-up and the …
BACKGROUND: Oral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid …
Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF. Kavallar AM, et al. Hepatol Commun. 2023 Sep 27;7(10):e0286. doi: 10.1097/HC9.0000000000000286. eCollection 2023 Oct 1. Hepatol Commun. 2023. PMID: 37756114 Free PMC article.
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous rare congenital cholestatic liver disease. Disease progression might necessitate liver transplantation (LT). ...RESULTS: Seventy-nine studies with 507 patients met inclusion criteria; most …
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous rare congenital cholestatic liver disease. Diseas …
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 …
Chronic cholangitides: aetiology, diagnosis, and treatment.
Sherlock S. Sherlock S. Br Med J. 1968 Aug 31;3(5617):515-21. doi: 10.1136/bmj.3.5617.515. Br Med J. 1968. PMID: 4971054 Free PMC article.
Aetiological factors include infection, immunological changes, hormones, and congenital defects.Patients with chronic cholestasis have decreased bile salts in the intestinal contents and suffer from a bile salt deficiency syndrome. ...Pruritus a …
Aetiological factors include infection, immunological changes, hormones, and congenital defects.Patients with chronic cholesta …
Essential fatty acid deficiency in congenital biliary atresia: successful treatment to reverse deficiency.
Miyano T, Yamashiro Y, Shimizu T, Arai T, Suruga T, Hayasawa H. Miyano T, et al. J Pediatr Surg. 1986 Mar;21(3):277-81. doi: 10.1016/s0022-3468(86)80854-5. J Pediatr Surg. 1986. PMID: 3083086
Infusion of EFA-rich powder dissolved in excreted bile was effective in six patients except for a case who had a total bile acid concentration in the excreted bile that was less than critical micellar level. Administration of EFA-rich powder dissolved …
Infusion of EFA-rich powder dissolved in excreted bile was effective in six patients except for a case who had a total 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.
Arthrogryposis, renal dysfunction and cholestasis syndrome.
Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM. Abdullah MA, et al. Saudi Med J. 2000 Mar;21(3):297-9. Saudi Med J. 2000. PMID: 11533803
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tubular dysfunction from a Saudi family with 2 other siblings and 3 cousins who possibly died with a similar clinical picture. We …
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tub …