https://www.selleckchem.com/pr....oducts/sodium-pyruva
Taken together, these structural and functional data provide new insights into the regulation of mitochondrial calcium uptake.Patients with defects in the ATP6AP1 gene have rarely been described. ATP6AP1-related disorders are a subtype of CDG, which result in enzyme deficiencies affecting multiple organ systems ranging from mild to life-threatening. Of the 13 patients described, all had hepatopathy, but this is the first case to be successfully transplanted. We describe two brothers who developed hyperbilirubinemia shortly after
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