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Quoted phrase not found in phrase index: "Congenital bile acid synthesis defect 3"
Page 1
Outcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Vasudevan AK, Shanmugam N, Rammohan A, Valamparampil JJ, Rinaldhy K, Menon J, Thambithurai R, Namasivayam S, Kaliamoorthy I, Rela M. Vasudevan AK, et al. Pediatr Transplant. 2023 Dec;27(8):e14600. doi: 10.1111/petr.14600. Epub 2023 Sep 7. Pediatr Transplant. 2023. PMID: 37675889
RESULTS: Of 60 children with PFIC who underwent LT, 13, 11, 31 & 5 were of PFIC 1, 2, 3 & 4, respectively. There were no significant differences in gender, PELD scores, BMI, type of grafts, cold and warm ischemia times, intraoperative blood loss, and morbidity amon …
RESULTS: Of 60 children with PFIC who underwent LT, 13, 11, 31 & 5 were of PFIC 1, 2, 3 & 4, respectively. There were no sign …
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 …
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 …
Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.
Kremer AE, Gonzales E, Schaap FG, Oude Elferink RP, Jacquemin E, Beuers U. Kremer AE, et al. J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):530-5. doi: 10.1097/MPG.0000000000001044. J Pediatr Gastroenterol Nutr. 2016. PMID: 26628447
METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary atresia [n = 2], neonatal sclerosing cholangitis (n = 1), progressive familial intrahepatic cholestasis type 2 [n = 1]), 9 patients with b …
METHODS: A cohort of 45 children consisting of 14 patients experiencing itching (Alagille syndrome [n = 10], complete extrahepatic biliary a …
MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D. Girard M, et al. Hepatology. 2014 Jul;60(1):301-10. doi: 10.1002/hep.26974. Epub 2014 May 27. Hepatology. 2014. PMID: 24375397
Pretransplant liver biopsies were analyzed by immunostaining and electron microscopy. Cholestasis occurred before (n = 5) or after (n = 3) ITx and was characterized by intermittent jaundice, intractable pruritus, increased serum bile acid (BA) levels, and nor …
Pretransplant liver biopsies were analyzed by immunostaining and electron microscopy. Cholestasis occurred before (n = 5) or after (n = 3 …
Familial unconjugated hyperbilirubinemia syndromes.
Reichen J. Reichen J. Semin Liver Dis. 1983 Feb;3(1):24-35. doi: 10.1055/s-2008-1040668. Semin Liver Dis. 1983. PMID: 6836332
Our understanding of the biochemical defects underlying the hepatic forms of congenital, unconjugated hyperbilirubinemias has been greatly enhanced over the past decade. This is mostly due to the availability of pure, labeled bilirubin, the appropriate kinetic analy …
Our understanding of the biochemical defects underlying the hepatic forms of congenital, unconjugated hyperbilirubinemias has …
New concepts in bilirubin and jaundice: report of the Third International Bilirubin Workshop, April 6-8, 1995, Trieste, Italy.
Tiribelli C, Ostrow JD. Tiribelli C, et al. Hepatology. 1996 Nov;24(5):1296-311. doi: 10.1002/hep.510240551. Hepatology. 1996. PMID: 8903413
This finding differs from some reports that suggest that the two pKa values in aqueous systems are near or above pH 7.0. (2) Contrasting views of the hydrophobic interactions of UCB with bile salts were presented: one suggested that multiple bile salt monomer …
This finding differs from some reports that suggest that the two pKa values in aqueous systems are near or above pH 7.0. (2) Contrasting vie …
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Wei CS, Becher N, Friis JB, Ott P, Vogel I, Grønbæk H. Wei CS, et al. World J Gastroenterol. 2020 Feb 7;26(5):550-561. doi: 10.3748/wjg.v26.i5.550. World J Gastroenterol. 2020. PMID: 32089630 Free PMC article.
Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4 (TJP2([NM_004817.3]:c.[3334C>T]; [3334C>T])). The consanguineous family consists of the father and mother (both heterozygous) and their 12 children, of which five carry the variant in a homozygous …
Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4 (TJP2([NM_004817.3]:c.[3334C>T]; [3334C>T])). The consan …
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 also d …
We report for the first time from the Arabian Gulf area 3 patients with arthrogryposis multiplex congenita, cholestasis and renal tub …