This deficiency results in early dysfunction of proximal tubule (PT) cells and proximal tubulopathy, which progresses to chronic kidney disease and multisystem complications later in life. The authors ...

Mitochondria are essential organelles for neuronal function and cell survival. Besides the well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid biogenesis, regulation ...

2 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening ...