Crigler Najjar Syndrome, Type 2
Last Posted: May 12, 2023
- [A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].
L Luo, et al. Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2023 0 (2) 168-173
- Bilirubin metabolism and UDP-glucuronosyltransferase 1A1 variants in Asians: Pathogenic implications and therapeutic response.
Huang May-Jen, et al. The Kaohsiung journal of medical sciences 2022 0 (8) 729-738
- Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.
Ça?an Appak Yeliz, et al. Turkish archives of pediatrics 2022 0 (3) 295-299
- Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Cozzi Laura, et al. Italian journal of pediatrics 2022 0 (1) 59
- [Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].
Xiong Q F, et al. Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2019 0 (12) 898-902
- Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I.
Abdellaoui Nawel, et al. Journal of clinical laboratory analysis 2022 6 (6) e24482
- UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
Abuduxikuer Kuerbanjiang, et al. Medicine 2018 12 (49) e13576
- Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li Lufeng, et al. PloS one 2015 0 (5) e0126263
- [Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia].
Sun Shun-chang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2013 8 (4) 425-8
- Crigler Najjar syndrome, type 1
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
- Content source: