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Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency.

作者信息

Kumar Varun, Kumar Karunesh, Sibal Anupam

机构信息

Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, 110076, India.

出版信息

Indian J Pediatr. 2024 Dec;91(12):1291. doi: 10.1007/s12098-024-05230-x. Epub 2024 Aug 26.

DOI:10.1007/s12098-024-05230-x
PMID:39186236
Abstract
摘要

相似文献

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Fever Triggered Recurrent Acute Liver Failure due to RINT1 Deficiency.因RINT1缺乏导致发热引发的复发性急性肝衰竭
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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.RINT1 基因的双等位基因突变可导致婴儿期起病的复发性急性肝衰竭和骨骼异常。
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Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.以反复急性肝衰竭为表现的囊泡运输障碍:NBAS、RINT1和SCYL1缺乏症。
J Inherit Metab Dis. 2025 Jan;48(1):e12707. doi: 10.1002/jimd.12707. Epub 2024 Jan 27.
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[Liver transplantation for the treatment of acute liver failure in 3 cases with NBAS gene deficiency and literature review].[3例NBAS基因缺陷所致急性肝衰竭的肝移植治疗及文献复习]
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J Virol. 2017 Feb 14;91(5). doi: 10.1128/JVI.02305-16. Print 2017 Mar 1.

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FASEB J. 2025 Aug 15;39(15):e70909. doi: 10.1096/fj.202500742R.

本文引用的文献

1
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.以反复急性肝衰竭为表现的囊泡运输障碍:NBAS、RINT1和SCYL1缺乏症。
J Inherit Metab Dis. 2025 Jan;48(1):e12707. doi: 10.1002/jimd.12707. Epub 2024 Jan 27.
2
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.NBAS 变异与 NK 和 B 细胞数量和质量缺陷相关。
J Clin Immunol. 2021 Nov;41(8):1781-1793. doi: 10.1007/s10875-021-01110-7. Epub 2021 Aug 13.
3
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
RINT1 基因的双等位基因突变可导致婴儿期起病的复发性急性肝衰竭和骨骼异常。
Am J Hum Genet. 2019 Jul 3;105(1):108-121. doi: 10.1016/j.ajhg.2019.05.011. Epub 2019 Jun 13.
4
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.由于NBAS缺乏导致的复发性急性肝衰竭:表型谱、疾病机制及治疗理念
J Inherit Metab Dis. 2016 Jan;39(1):3-16. doi: 10.1007/s10545-015-9896-7. Epub 2015 Nov 5.