Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01080-4
Abstract: Background Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin lesions. Case presentation In this paper, we… read more here.
Keywords: hlcs; chinese han; holocarboxylase synthetase; gene ... See more keywords
Development of a method of passaging and freezing human iPS cell-derived hepatocytes to improve their functions
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DOI: 10.1371/journal.pone.0285783
Abstract: Human induced pluripotent stem (iPS) cell-derived hepatocyte-like cells (HLCs) are expected to replace primary human hepatocytes as a new source of functional hepatocytes in various medical applications. However, the hepatic functions of HLCs are still… read more here.
Keywords: ips cell; human ips; hlcs; method passaging ... See more keywords
HiPSC-Derived Hepatocyte-like Cells Can Be Used as a Model for Transcriptomics-Based Study of Chemical Toxicity.
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DOI: 10.3390/toxics10010001
Abstract: Traditional toxicity risk assessment approaches have until recently focussed mainly on histochemical readouts for cell death. Modern toxicology methods attempt to deduce a mechanistic understanding of pathways involved in the development of toxicity, by using… read more here.
Keywords: hipsc derived; like cells; toxicity; hlcs ... See more keywords