Age‐related phenotype and biomarker changes in SSADH deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.696
Abstract: Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a disorder of elevated gamma‐amino butyric acid (GABA) and gamma hydroxybutyric acid (GHB) and a complex neuropsychiatric profile. Adult reports suggest worsening epilepsy and high SUDEP risk. read more here.
Keywords: phenotype biomarker; biomarker changes; ssadh deficiency; age related ... See more keywords
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Physiology and Biochemistry"
DOI: 10.1080/13813455.2019.1628065
Abstract: Abstract Mitochondrial fatty acid β-oxidation disorders (FAOD) are among the diseases detected by newborn screening in most developed countries. Alterations of mitochondrial functionality are characteristic of these metabolic disorders. However, many questions remain to be… read more here.
Keywords: coa dehydrogenase; dehydrogenase deficiency; acyl coa; related phenotype ... See more keywords
The Educational Program of Macrophages toward a Hyperprogressive Disease-Related Phenotype Is Orchestrated by Tumor-Derived Extracellular Vesicles
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232415802
Abstract: Hyperprogressive disease (HPD), an aggressive acceleration of tumor growth, was observed in a group of cancer patients treated with anti-PD1/PDL1 antibodies. The presence of a peculiar macrophage subset in the tumor microenvironment is reported to… read more here.
Keywords: phenotype; related phenotype; hyperprogressive disease; derived extracellular ... See more keywords