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While research has traditionally focused on T cells, B cells, and autoantibodies, emerging evidence highlights another critical player: mast cells

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CLTRN gene encodes the protein collectrin, a homolog of angiotensin-converting enzyme 2 (ACE2), which is involved in transportation and activation of B 0 AT1 protein in the renal epithelium ( Organic Acidurias Propionic Aciduria Propionic aciduria (PA) is an inborn error of branched chain amino acids metabolism, defined by accumulation of propionic acid due to deficiency of enzyme propionyl-CoA carboxylase ( L-2 Hydroxyglutaric Aciduria L-2-hydroxyglutaric aciduria is a metabolic disorder affecting CNS and characterized by elevated concentrations of L-2-hydroxyglutaric acid in plasma, urine and cerebrospinal fluid (CSF) due to the deficiency of L-2-hydroxyglutarate dehydrogenase