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Blank CU, Haining WN, Held W, Hogan PG, Kallies A, Lugli E, et al

Although most pathogenic variants in pyruvate dehydrogenase complex deficiency-associated genes to date are within the coding regions and are likely to be identified on exome sequencing, pathogenic splicing variants outside the canonical splice junction, deep intronic variants, as well as structural variants resulting in pyruvate dehydrogenase complex deficiency, could be identified by genome sequencing

GHK Cu has been extensively studied for its effects on collagen and elastin production, enzymes involved in tissue remodeling, and extracellular matrix support

WL: Data curation, Writing review & editing

Novel roles for protein disulphide isomerase in disease states: a double edged sword