Zobrazeno 1 - 10 of 21 pro vyhledávání: '"COXPD21"'
1
Akademický článek
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Autor: Zhang, Shujie1 (AUTHOR), Qin, Haisong1 (AUTHOR), Wang, Qingming2 (AUTHOR), Wang, Yingfei1 (AUTHOR), Liu, Yanhui3 (AUTHOR), Yang, Qi1 (AUTHOR), Luo, Jingsi1 (AUTHOR), Qin, Zailong1 (AUTHOR), Ji, Xiang4 (AUTHOR), Kan, Lijuan4 (AUTHOR), Geng, Guoxing1 (AUTHOR), Huang, Jing1 (AUTHOR), Wei, Shengkai1 (AUTHOR), Chen, Qiuli1 (AUTHOR), Shen, Yiping1,5 (AUTHOR), Yuan, Haiming2 (AUTHOR) haimingyuan@sina.cn, Lai, Baoling3 (AUTHOR) angell_hood95@sina.com
Publikováno v: Orphanet Journal of Rare Diseases. 10/11/2024, Vol. 19 Issue 1, p1-6. 6p.
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2
Akademický článek
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy
Autor: Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling Lai
Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb h
Externí odkaz: https://doaj.org/article/8be34e77e1ac4cecbd08e2d7d860c3ed
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3
Akademický článek
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.
Autor: Paripović, A1,2 (AUTHOR), Maver, A3 (AUTHOR), Stajić, N1,2 (AUTHOR), Putnik, J1,2 (AUTHOR), Ostojić, S2,4 (AUTHOR), Alimpić, B5 (AUTHOR), Ilić, N6 (AUTHOR), Sarajlija, A2,6 (AUTHOR) adrijans2004@yahoo.com
Publikováno v: Balkan Journal of Medical Genetics. Dec2023, Vol. 26 Issue 2, p59-64. 6p.
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5
Akademický článek
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
Autor: He, Peiqing, Wang, Qingming, Hong, Xiaochun, Yuan, Haiming
Publikováno v: American Journal of Medical Genetics. Part A; Jan2023, Vol. 191 Issue 1, p70-76, 7p
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6
Akademický článek
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8
Akademický článek
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9
Akademický článek
Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21
Autor: Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A
Publikováno v: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 59-64 (2024)
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of
Externí odkaz: https://doaj.org/article/5eba4a35561d4ef78f233f32d6f62573
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10
TARS2 variants causes combination oxidative phosphorylation deficiency-21: a case report and literature review
Autor: Xin Gao, Guoyan Xin, Ya Tu, Xiaoping Liang, Huimin Yang, Hong Meng, Yumin Wang
Publikováno v: Neuropediatrics.
Objective: To explore the clinical characteristics and genetic characteristics of the combined oxidative phosphorylation defect type 21 (COXPD21) caused by the TARS2 compound heterozygous varians, and to improve clinicians' awareness of the disease.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c47209155c85c7b8404e570c34f2596d
https://doi.org/10.1055/a-1949-9310
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