Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.02.006
Abstract: Adenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine monophosphate. Since 2016, when mutations in the ADSSL1 gene were first… read more here.
Keywords: expanding disease; muscle; adssl1 associated; phenotype adssl1 ... See more keywords
The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson’s disease
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01452-2
Abstract: Background Macrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is associated with severity and prognosis in a number of different acute and chronic liver diseases but… read more here.
Keywords: liver disease; disease phenotype; scd163; macrophage activation ... See more keywords
A Novel Anti-Inflammatory d-Peptide Inhibits Disease Phenotype Progression in an ALS Mouse Model
Sign Up to like & getrecommendations! Published in 2021 at "Molecules"
DOI: 10.3390/molecules26061590
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterised by selective neuronal death in the brain stem and spinal cord. The cause is unknown, but an increasing amount of evidence has firmly certified that… read more here.
Keywords: peptide; treatment; disease; progression ... See more keywords
Serologic testing of a panel of five antibodies in inflammatory bowel diseases: Diagnostic value and correlation with disease phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Biomedical Reports"
DOI: 10.3892/br.2017.860
Abstract: The aim of the present study was to evaluate the diagnostic value of five serological antibodies, perinuclear antineutrophil cytoplasmic antibody (pANCA), anti-Saccharomyces cerevisiae antibodies [ASCA; ASCA-immunoglobulin (IgG)and ASCA-IgA], Escherichia coli outer membrane porin C antibody… read more here.
Keywords: inflammatory bowel; anti ompc; disease; bowel diseases ... See more keywords