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pro vyhledávání: '"Jin-Wen Ni"'
Autor:
Zhen-Ran Xu, Xiao-Yi Zhu, Wei Lu, Wei-Hua Sun, Ruo-Qian Cheng, Jin-Wen Ni, Li Xi, Khalid Hussain, Fei-Hong Luo, Miao-Ying Zhang
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
BackgroundIn addition to inborn metabolic disorders, altered metabolic profiles were reported to be associated with the risk and prognosis of some non-metabolic diseases, while as a rare metabolic disease, the overall secondary metabolic spectrum in
Externí odkaz:
https://doaj.org/article/95a22a06cd104f51be33f56255dcf101
Autor:
Huijun Wang, Wenhao Zhou, Si-Min Ma, Lin Yang, Bijun Sun, Mei Mei, Zi‐chuan Fan, Liyuan Hu, Jin‐wen Ni
Publikováno v:
Molecular Genetics & Genomic Medicine
Congenital hyperinsulinism (CHI) has been mostly associated with mutations in seven major genes. We retrospectively reviewed a cohort of 32 patients with CHI. Extensive mutational analysis (ABCC8,KCNJ11,GCK,GLUD1,HADH,HNF4A, and UCP2) was performed o