type 2 Crigler Najjar syndrome

05/29/1971 - "Phetharbital was also effective in the rare severe unconjugated hyperbilirubinaemia of the Crigler-Najjar syndrome (Type 2). "

09/01/2023 - "Effects of high bilirubin level in pregnancy in Crigler-Najjar syndrome type 2: An extremely rare but important clinical entity to recognize."
05/01/1976 - "Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II."
04/18/2022 - "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. "
07/01/2019 - "Crigler-Najjar syndrome type 2 patients have intermediate levels of bilirubin owing to incomplete deficiency of UGT1A1, and Gilbert syndrome lies at the extreme mild end of the spectrum with only slightly raised bilirubin level. "
11/01/2017 - "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. "

11/01/2003 - "Heterozygotes of nonsense mutations (Q331X and C280X) in our previous study had either Crigler-Najjar syndrome type II or Gilbert's syndrome, but heterozygotes of R341X (mother and grandmothers) were normal. "
11/01/2003 - "Therefore, the present results indicate that carriers of the nonsense mutation could be normal for plasma bilirubin concentration, Gilbert's syndrome and Crigler-Najjar syndrome type II. The results also suggest the importance of the accumulation of prevalent or polymorphic mutation in the etiology of Gilbert's syndrome and Crigler-Najjar syndrome type II."
09/04/2013 - "This report describes the case of a 4-month-old boy with the cardinal symptoms of Crigler-Najjar syndrome type II. Molecular genetic analysis showed a homozygous UGT1A1 promoter mutation [A(TA)7TAA] and a heterozygous insertion of 1 adenosine nucleotide between positions 353 and 354 in exon 1 of UGT1A1 that caused a frameshift with a premature stop codon. "

05/01/1976 - "The present study documents a reduced biliary bilirubin secretion and suggests that the addition of the second glucuronic acid moiety to the bilirubin molecule may be defective in Crigler-Najjar syndrome (type II)."

03/01/2014 - "Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum."
02/01/1993 - "The Crigler-Najjar-Syndrome type II is characterised by the decreased activity of the bilirubin-UDP-glucuronyltransferase. "
03/01/2011 - "Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II."
06/01/1998 - "Homozygous missense mutations of the gene have previously been recognized as responsible for Crigler-Najjar syndrome type II. We conclude that Gilbert syndrome in some patients results from homozygous missense mutations of the UDP-glucuronosyltransferase gene."
01/01/2022 - "Crigler-Najjar syndrome type 2 (CNS-II) is a rare genetic disease that is associated with a lack of uridine diphosphate-glucuronosyltransferase. "

10/15/2014 - "Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis."
05/01/2002 - "Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene."
10/01/2001 - "A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II."
09/01/2000 - "Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene."
01/01/1998 - "Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II."

06/01/2016 - "The patient was diagnosed with Crigler-Najjar syndrome type II and received oral phenobarbital treatment. "
10/01/2018 - "We report, herein, an extremely rare case of Crigler-Najjar syndrome type II and how the patient responded to phenobarbital therapy. "
09/01/2005 - "Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II."
02/01/2001 - "A 34-year-old woman, gravida 4, para 1, with Crigler-Najjar syndrome Type II was treated with phenobarbital administration following phototherapy during each of 2 pregnancies. "
02/01/2001 - "Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report."

01/01/2022 - "Crigler-Najjar syndrome type 2 (CNS-II) is a rare genetic disease that is associated with a lack of uridine diphosphate-glucuronosyltransferase. "
10/01/2018 - "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 from the body. "
12/30/1993 - "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II."
03/01/2014 - "Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). "
04/28/1998 - "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 homozygote for G71R and six patients with Gilbert's syndrome who were single heterozygote for G71R. "

04/01/1998 - "There was no overlap of the enzyme activities of 2 cases with Crigler-Najjar syndrome (type II) (0.006 nmole/mg protein/min on average) and 6 cases with Gilbert's syndrome (0.051 +/- 0.016 nmole/mg protein/min). "
10/01/2018 - "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 from the body. "
08/01/2010 - "Crigler Najjar syndrome type II is related to a defect of bilirubin conjugation due to partial deficiency of the enzyme uridine diphosphate-glucuronyl transferase. "
11/02/1995 - "We sequenced the coding and promoter regions of the gene for bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1)--the only enzyme that contributes substantially to bilirubin glucuronidation--in 10 unrelated patients with Gilbert's syndrome, 16 members of a kindred with a history of Crigler-Najjar syndrome type II, and 55 normal subjects. "
12/01/2007 - "UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II. This work compared the effects of (a) the individual UGT1A1 mutations on the glucuronidation kinetics bilirubin, beta-estradiol, 4-methylumbelliferone (4MU) and 1-naphthol (1NP), and (b) the Y486 mutation, which occurs in the conserved carboxyl terminal domain of UGT1A enzymes, on 4MU, 1NP and naproxen glucuronidation by UGT1A3, UGT1A6 and UGT1A10. "

03/01/2014 - "Mutations in the gene encoding bilirubin UDP-glucuronosyltransferase (UGT1A1) are known to cause Crigler-Najjar syndrome type II (CN-II). "
05/01/1996 - "Crigler-Najjar syndrome type II (CN-II) is caused by a severely reduced hepatic activity of bilirubin UDP-glucuronosyltransferase (UGT). "
07/01/1999 - "Homozygous missense mutations of the bilirubin-UDP-glucuronosyltransferase gene cause not only Crigler-Najjar syndrome type II but also Gilbert syndrome."
11/02/1995 - "We sequenced the coding and promoter regions of the gene for bilirubin UDP-glucuronosyltransferase 1 (bilirubin/uridine diphosphoglucuronate-glucuronosyltransferase 1)--the only enzyme that contributes substantially to bilirubin glucuronidation--in 10 unrelated patients with Gilbert's syndrome, 16 members of a kindred with a history of Crigler-Najjar syndrome type II, and 55 normal subjects. "

10/01/2018 - "We report, herein, an extremely rare case of Crigler-Najjar syndrome type II and how the patient responded to phenobarbital therapy. "
09/01/2005 - "Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II."

06/01/1997 - "This case report describes a young adult with Crigler-Najjar syndrome type II in whom kernicterus developed after a laparoscopic cholecystectomy. "

03/01/1996 - "[Anesthetic and postoperative care of a patient with Crigler-Najjar syndrome type II]."

02/01/2001 - "A 34-year-old woman, gravida 4, para 1, with Crigler-Najjar syndrome Type II was treated with phenobarbital administration following phototherapy during each of 2 pregnancies. "
02/01/2001 - "Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report."

03/01/1996 - "A 64-yr-old man with Crigler-Najjar syndrome type II underwent cholecystectomy. "