Letter in response to case "Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.
作者信息
Belostotsky Ruth
机构信息
Shaare Zedek Medical Center, Pediatric Nephrology Department, Shmuel Beyth St 12, Jerusalem, 9103102, Israel.
出版信息
Oxf Med Case Reports. 2024 Dec 10;2024(12):omae153. doi: 10.1093/omcr/omae153. eCollection 2024 Dec.
Abstract
摘要
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Letter in response to case "Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.针对病例“严重急性呼吸综合征冠状病毒2（SARS-CoV-2）基因变异导致具有非典型特征的HUPRA综合征：两例病例报告及文献综述”的回复信
Oxf Med Case Reports. 2024 Dec 10;2024(12):omae153. doi: 10.1093/omcr/omae153. eCollection 2024 Dec.
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Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.SARS2基因变异导致具有非典型特征的HUPRA综合征：两例病例报告及文献综述
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本文引用的文献
1
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.线粒体丝氨酰-tRNA 合成酶突变导致婴儿期高尿酸血症、肺动脉高压、肾衰竭和碱中毒，HUPRA 综合征。
Am J Hum Genet. 2011 Feb 11;88(2):193-200. doi: 10.1016/j.ajhg.2010.12.010. Epub 2011 Jan 20.
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