Kernicterus caused by a rare genetic variant of Crigler-Najjar Syndrome (c.826G>C)

被引：0
|
作者：
Agarwal, Saurabh [1 ]
Kumar, U. K. Kandha [1 ]
Parameswaran, Arun Sree [1 ]
Saini, Lokesh [1 ]
Singh, Kuldeep [1 ]
机构：
[1] All India Inst Med Sci, Dept Pediat, Jodhpur, Rajasthan, India
来源：
INDIAN JOURNAL OF PEDIATRICS | 2024年 / 91卷 / 12期
关键词：
D O I：
10.1007/s12098-024-05288-7
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：1316 / 1316
页数：1
相关论文
共 50 条
  • [31] Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1
    Maruo, Y
    Topaloglu, AK
    Takahashi, H
    Mori, A
    Iwai, M
    Duzovali, O
    Yamamoto, K
    Matui, K
    Sato, H
    Takeuchi, Y
    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2006, 42 (02): : 236 - 239
  • [32] A Step Toward Liver Gene Therapy: Efficient Correction of the Genetic Defect of Hepatocytes Isolated From a Patient With Crigler-Najjar Syndrome Type 1 With Lentiviral Vectors
    Birraux, Jacques
    Menzel, Olivier
    Wildhaber, Barbara
    Jond, Caty
    Nguyen, Tuan Huy
    Chardot, Christophe
    TRANSPLANTATION, 2009, 87 (07) : 1006 - 1012
  • [33] UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
    Gailite, Linda
    Valenzuela-Palomo, Alberto
    Sanoguera-Miralles, Lara
    Rots, Dmitrijs
    Kreile, Madara
    Velasco, Eladio A.
    FRONTIERS IN GENETICS, 2020, 11
  • [34] IDENTIFICATION OF AN A-TO-G MISSENSE MUTATION IN EXON-2 OF THE UGT1 GENE-COMPLEX THAT CAUSES CRIGLER-NAJJAR SYNDROME TYPE-2
    MOGHRABI, N
    CLARKE, DJ
    BOXER, M
    BURCHELL, B
    GENOMICS, 1993, 18 (01) : 171 - 173
  • [35] SEQUENCE OF EXONS AND THE FLANKING REGIONS OF HUMAN BILIRUBIN-UDP-GLUCURONOSYLTRANSFERASE GENE-COMPLEX AND IDENTIFICATION OF A GENETIC MUTATION IN A PATIENT WITH CRIGLER-NAJJAR SYNDROME, TYPE-I
    BOSMA, PJ
    CHOWDHURY, NR
    GOLDHOORN, BG
    HOFKER, MH
    ELFERINK, RPJO
    JANSEN, PLM
    CHOWDHURY, JR
    HEPATOLOGY, 1992, 15 (05) : 941 - 947
  • [36] Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome
    Minucci, Angelo
    Ruggiero, Antonio
    Canu, Giulia
    Maurizi, Palma
    De Bonis, Maria
    Concolino, Paola
    De Luca, Daniele
    Capoluongo, Ettore
    PEDIATRIC BLOOD & CANCER, 2015, 62 (09) : 1680 - 1681
  • [37] RETROVIRUS-MEDIATED EXPRESSION OF HUG BR1 IN CRIGLER-NAJJAR SYNDROME TYPE-I HUMAN FIBROBLASTS AND CORRECTION OF THE GENETIC-DEFECT IN GUNN RAT HEPATOCYTES
    ASKARI, F
    HITOMI, E
    THINEY, M
    WILSON, JM
    GENE THERAPY, 1995, 2 (03) : 203 - 208
  • [38] 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
    Bixia Zheng
    Guorui Hu
    Jin Yu
    Zhifeng Liu
    BMC Pediatrics, 14
  • [39] 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
    Zheng, Bixia
    Hu, Guorui
    Yu, Jin
    Liu, Zhifeng
    BMC PEDIATRICS, 2014, 14
  • [40] 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
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1998, 1406 (03): : 267 - 273
12345