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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 morbidi …
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 …
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 …
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 …
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P. Vitale G, et al. J Gastroenterol. 2018 Aug;53(8):945-958. doi: 10.1007/s00535-017-1423-1. Epub 2017 Dec 13. J Gastroenterol. 2018. PMID: 29238877
Bioinformatics analyses were performed for mechanistic and functional predictions of their consequences on biomolecular interaction interfaces. ...Patients with pathogenic/likely pathogenic mutations had higher levels of liver stiffness (measured by FibroScan()) and bil …
Bioinformatics analyses were performed for mechanistic and functional predictions of their consequences on biomolecular interaction i …