Výsledky vyhledávání

Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China

Autor: Chenlu, Jia, Dehua, Zhao, Yanru, Li, Yanbo, Gao, Xiaoli, Zhang, Xiaole, Li, Shubo, Lv, Runqing, Li, Xinyun, Zhu, Suna, Liu

Publikováno v: Clinica Chimica Acta. 539:90-96

Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. Recent availability in treatment for DMD raised the need of early screening in our center, but newborn screening (NBS) for DMD has not been carried out i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879e252d2b3abb10d4ec91ccefe8d779
https://doi.org/10.1016/j.cca.2022.11.024

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Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China

Autor: Yuan, Tian, Xinyun, Zhu, Shubo, Lv, Chenlu, Jia, Linlin, Zhang, Min, Ni, Yizhuo, Xu, Rui, Peng, Suna, Liu, Dehua, Zhao

Publikováno v: Clinica Chimica Acta. 536:155-161

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation and one of the most common inborn errors of metabolism. The incidence of MCADD varies among regions and ethnic groups. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30069a2777876a9714b15310b015c47f
https://doi.org/10.1016/j.cca.2022.09.008

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[Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency]

Autor: Xiaole, Li, Dengna, Zhu, Suna, Liu, Chenlu, Jia, Yaqing, Guo, Linlin, Zhang, Mingmei, Wang, Dehua, Zhao

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(7)

To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay.Clinical and laboratory examinations were carried out for the child. Genomic DNA of the patient was subjected to high-throughput sequenci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a7816b2fc5ca279fb651fe4cd87e62b
https://pubmed.ncbi.nlm.nih.gov/35810427

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Association of BAFF/BAFF-R Single Nuclear Polymorphisms with Renal Graft Function in Kidney Transplant Recipients

Autor: Haiyan Xu, Chenlu Jia, Xiaozhou He, Renfang Xu

The BAFF/BAFF-R signal correlates with antibody-mediated rejection and renal function decline after renal transplantation. We investigated the relationship between BAFF/BAFF-R single nucleotide polymorphisms (SNPs) and renal graft function in kidney

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::518e6970dc518abdca3ae60e0fa0c25c
https://doi.org/10.21203/rs.3.rs-1337055/v1

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