Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Zhaoming Ji"'
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Abernethy malformation is a rare abnormality of the hepatic portal vein system with non-specific and diverse clinical manifestations. Here, we described a case of abernethy malformation with hepatopulmonary syndrome in a 10-year-old girl. On physical
Externí odkaz:
https://doaj.org/article/c8af0df200ad42f28e2573a3a7f0302a
Autor:
Chunli Wang, Chang Yuan, Zhaoming Ji, Jie Yin, Zhongman Zhang, Han Zhang, Bixia Zheng, Wei Zhou, Shiwei Yang
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102775- (2022)
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBMCs of sibling with the compound heterozygous variants in GTPBP3 (NM_133644): c.1289G>A(p.Cys430Tyr);
Externí odkaz:
https://doaj.org/article/de321100cd964eb493ef5a554baaffa6
Autor:
Chunli Wang, Chang Yuan, Zhaoming Ji, Jie Yin, Zhongman Zhang, Han Zhang, Bixia Zheng, Wei Zhou, Shiwei Yang
Publikováno v:
Stem cell research. 61
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease. The patient-derived PBMCs of sibling with the compound heterozygous variants in GTPBP3 (NM_133644): c.1289GA(p.Cys430Tyr);