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Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.
Liaqat A, Shahid A, Attiq H, Ameer A, Imran M. Liaqat A, et al. J Coll Physicians Surg Pak. 2018 Oct;28(10):806-808. J Coll Physicians Surg Pak. 2018. PMID: 30266131
Crigler-Najjar syndrome type II is caused by mutations in the UGT1A1 gene resulting in severely reduced hepatic activity of UDP-glucoronyltransferase - an enzyme required to convert bilirubin into a more soluble form that can then be removed fro …
Crigler-Najjar syndrome type II is caused by mutations in the UGT1A1 gene resulting in severely reduced h …
Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Cozzi L, Nuti F, Degrassi I, Civeriati D, Paolella G, Nebbia G. Cozzi L, et al. Ital J Pediatr. 2022 Apr 18;48(1):59. doi: 10.1186/s13052-022-01251-4. Ital J Pediatr. 2022. PMID: 35436954 Free PMC article.
Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome type II (CNS), but the complete normalization of bilirubin makes GS more likely. Homozygous P364L variant can be associated with sev …
Our cases presented high bilirubin values, overlapping between Gilbert syndrome (GS) and Crigler-Najjar syndrome typ …
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II.
Gordon ER, Shaffer EA, Sass-Kortsak A. Gordon ER, et al. Gastroenterology. 1976 May;70(5 PT.1):761-5. Gastroenterology. 1976. PMID: 1261771
Features characteristic of the Crigler-Najjar syndrome (type II) are described in an adolescent boy with severe congenital unconjugated hyperbilirubinemia. ...The present study documents a reduced biliary bilirubin secretion and suggests that th …
Features characteristic of the Crigler-Najjar syndrome (type II) are described in an adolescent boy with …
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
Gailite L, Rots D, Pukite I, Cernevska G, Kreile M. Gailite L, et al. BMC Pediatr. 2018 Oct 3;18(1):317. doi: 10.1186/s12887-018-1285-6. BMC Pediatr. 2018. PMID: 30285761 Free PMC article.
These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin levels and responsiveness to phenobarbital treatment. CASE PRESENTATION: In this report, we present a boy with Crigler-Najjar syndrome type …
These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin levels and responsiveness t …
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.
Sun L, Li M, Zhang L, Teng X, Chen X, Zhou X, Ma Z, Qi L, Wang P. Sun L, et al. Medicine (Baltimore). 2017 Nov;96(45):e8620. doi: 10.1097/MD.0000000000008620. Medicine (Baltimore). 2017. PMID: 29137095 Free PMC article.
Diagnosis of Crigler-Najjar syndrome type II (CNS-II) and Gilbert syndrome (GS) based on the serum bilirubin concentration is difficult, because this parameter can fluctuate under certain conditions. ...
Diagnosis of Crigler-Najjar syndrome type II (CNS-II) and Gilbert syndrome (GS) based on the serum biliru …
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II.
Yilmaz S, Dursun M, Canoruç F, Kidir V, Beştaş R. Yilmaz S, et al. Turk J Gastroenterol. 2006 Mar;17(1):62-5. Turk J Gastroenterol. 2006. PMID: 16830281 Free article.
Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive life-long unconjugated hyperbilirubinemia. ...
Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive lif …
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.
Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Yamamoto K, et al. Biochim Biophys Acta. 1998 Apr 28;1406(3):267-73. doi: 10.1016/s0925-4439(98)00013-1. Biochim Biophys Acta. 1998. PMID: 9630669 Free article.
In our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler-Najjar syndrome type II who were double homozygotes for G71R and Y486D, a patient with Gilbert's syndrome who was a single homo …
In our mutation analyses of bilirubin UDP glycosyltransferase (UGT1A1) gene, we encountered six patients with Crigler-Najjar …
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis.
Trotman BW, Shaw L, Roy-Chowdhury J, Malet PF, Rosato EF. Trotman BW, et al. Dig Dis Sci. 1983 Aug;28(8):753-62. doi: 10.1007/BF01312568. Dig Dis Sci. 1983. PMID: 6872808
The effect of phenobarbital treatment on bilirubin metabolism and bile secretion was studied in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. Following cholecystectomy and choledochostomy, a balloon inflatable T tube …
The effect of phenobarbital treatment on bilirubin metabolism and bile secretion was studied in a patient with Crigler-Najjar …
21 results