Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Jin-Qing Song"'
Autor:
Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang
Publikováno v:
Frontiers in Nutrition, Vol 10 (2023)
BackgroundThe most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms
Externí odkaz:
https://doaj.org/article/5a32ad0b2ce74b7fb1f2cdb5bd154301
Akademický článek
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Publikováno v:
Clinical laboratory. 64(7)
Background Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes. The Chinese cystinuria phenotype and genotype have rarely been reported in the literature. Methods For this research, the clinical featu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acce2d02a2081b42e47ae8858178f594
https://pubmed.ncbi.nlm.nih.gov/30146843
https://pubmed.ncbi.nlm.nih.gov/30146843
Autor:
Huang, Lan-Ji, Jia, Shu-Shan, Sun, Xue-Hua, Li, Xin-You, Wang, Fei-Fei, Li, Wei, Jin, Qing-Song
Publikováno v:
Experimental & Therapeutic Medicine; Sep2020, Vol. 20 Issue 3, p2684-2690, 7p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Tong Fei Wu, Yu Peng Liu, Qiao Wang, Yanling Yang, Yu Jie Wang, Jin Qing Song, Yan Yan Ma, Yao Zhang, Xi Yuan Li
Publikováno v:
Mitochondrial DNA. 24:67-73
Mitochondrial respiratory chain complex I enzyme deficiency is the most commonly seen mitochondrial respiratory chain disorder. Although screening and diagnostic methods are available overseas, clinically feasible diagnostic methods have not yet been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c794683c69effb3386e2d038fca0b5f7
https://doi.org/10.3109/19401736.2012.717932
https://doi.org/10.3109/19401736.2012.717932
Publikováno v:
Neurochemical research. 41(8)
Ischemic stroke is a major cause of morbidity and mortality, yet lacks effective neuroprotective treatments. The aim of this work was to investigate whether treatment with isorhamnetin protected the brain against ischemic injury in mice. Experimental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d92a38c9d08fbefada01eedc3e67a61f
https://pubmed.ncbi.nlm.nih.gov/27161367
https://pubmed.ncbi.nlm.nih.gov/27161367
Autor:
Yu-Peng, Liu, Yuan, Ding, Xi-Yuan, Li, Hai-Jun, Wang, Jin-Qing, Song, Jin-Tang, Ye, Tong-Fei, Wu, Yan-Ling, Yang
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 17(10)
Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47f4508231c5cf18b88c02696ea6509b
https://pubmed.ncbi.nlm.nih.gov/26483233
https://pubmed.ncbi.nlm.nih.gov/26483233
Autor:
Yu-Peng, Liu, Hai-Jun, Wang, Tong-Fei, Wu, Xi-Yuan, Li, Jin-Qing, Song, Yuan, Ding, Yao, Zhang, Qiao, Wang, Yan-Ling, Yang
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 17(2)
cblB defect is a rare type of methylmalonic aciduria. In this study, a Chinese boy was diagnosed with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene. The clinical presentations, blood acylcarnitines profiles, urine organic aci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1df226115a905fbfc1908fead51abef0
https://pubmed.ncbi.nlm.nih.gov/25760844
https://pubmed.ncbi.nlm.nih.gov/25760844
Autor:
Qiao, Wang, Yuan, Ding, Jing-Min, Wang, Qiong-Hui, Huang, Cheng-Feng, Zhao, Yu-Peng, Liu, Xi-Yuan, Li, Tong-Fei, Wu, Jin-Qing, Song, Yu-Jie, Wang, Yan-Ling, Yang
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 16(6)
Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::343eeefa281c19c977c827622c11077c
https://pubmed.ncbi.nlm.nih.gov/24927440
https://pubmed.ncbi.nlm.nih.gov/24927440