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697 results

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Page 1
Therapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.
Sambati V, Laudisio S, Motta M, Esposito S. Sambati V, et al. Int J Mol Sci. 2024 Oct 13;25(20):11006. doi: 10.3390/ijms252011006. Int J Mol Sci. 2024. PMID: 39456788 Free PMC article.
Crigler-Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bilirubin conjugation and severe unconjugated hyperbilirubinemia. ...
Crigler-Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bi …
Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics.
Ebrahimi A, Rahim F. Ebrahimi A, et al. Endocr Metab Immune Disord Drug Targets. 2018;18(3):201-211. doi: 10.2174/1871530318666171213153130. Endocr Metab Immune Disord Drug Targets. 2018. PMID: 29237388 Review.
BACKGROUND: Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare genetic disease with an estimated incidence of 0.6-1.0 per million live births. ...RESULTS: Phototherapy, orthotropic liver transplantation, li …
BACKGROUND: Crigler-Najjar syndrome (CNS, OMIM: 218800) is the paradigm of an inborn error of metabolism and a rare gen …
[Crigler-Najjar syndrome].
Torres M, Bruguera M. Torres M, et al. Gastroenterol Hepatol. 2005 Dec;28(10):637-40. doi: 10.1016/s0210-5705(05)71530-2. Gastroenterol Hepatol. 2005. PMID: 16373016 Review. Spanish. No abstract available.
Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
Dhawan A, Lawlor MW, Mazariegos GV, McKiernan P, Squires JE, Strauss KA, Gupta D, James E, Prasad S. Dhawan A, et al. J Gastroenterol Hepatol. 2020 Apr;35(4):530-543. doi: 10.1111/jgh.14853. Epub 2019 Oct 24. J Gastroenterol Hepatol. 2020. PMID: 31495946
BACKGROUND AND AIM: Crigler-Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total loss of uridine 5'-diphosphate glucuronyltransferase activity leading to unconjugated hyperbilirubinemia and its attendant risk for irreversi …
BACKGROUND AND AIM: Crigler-Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total l …
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
BACKGROUND: Patients with the Crigler-Najjar syndrome lack the enzyme uridine diphosphoglucuronate glucuronosyltransferase 1A1 (UGT1A1), the absence of which leads to severe unconjugated hyperbilirubinemia that can cause irreversible neurologic injury and dea …
BACKGROUND: Patients with the Crigler-Najjar syndrome lack the enzyme uridine diphosphoglucuronate glucuronosyltransfer …
Management of Crigler-Najjar syndrome.
Tcaciuc E, Podurean M, Tcaciuc A. Tcaciuc E, et al. Med Pharm Rep. 2021 Aug;94(Suppl No 1):S64-S67. doi: 10.15386/mpr-2234. Epub 2021 Aug 10. Med Pharm Rep. 2021. PMID: 34527915 Free PMC article.
Crigler-Najjar syndrome is a rare autosomal recessive inherited non-hemolytic unconjugated hyperbilirubinemia caused by UDP-glucuronosyltransferase deficiency. ...
Crigler-Najjar syndrome is a rare autosomal recessive inherited non-hemolytic unconjugated hyperbilirubinemia caused by …
What's next in gene therapy for Crigler-Najjar syndrome?
Aronson SJ, Ronzitti G, Bosma PJ. Aronson SJ, et al. Expert Opin Biol Ther. 2023 Feb;23(2):119-121. doi: 10.1080/14712598.2022.2160237. Epub 2022 Dec 29. Expert Opin Biol Ther. 2023. PMID: 36579791 No abstract available.
[Crigler-Najjar syndrome].
Itoh S, Onishi S. Itoh S, et al. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):259-62. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645055 Review. Japanese. No abstract available.
[Crigler-Najjar syndrome].
Itoh S. Itoh S. Ryoikibetsu Shokogun Shirizu. 2001;(33):519-21. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462547 Review. Japanese. No abstract available.
Crigler-Najjar syndrome: looking to the future does not make us forget the present.
Di Dato F, D'Uonno G, Iorio R. Di Dato F, et al. Orphanet J Rare Dis. 2024 Mar 7;19(1):102. doi: 10.1186/s13023-024-03108-x. Orphanet J Rare Dis. 2024. PMID: 38448957 Free PMC article.
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-term efficacy and safety. ...
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Althou …
697 results