Track topics on Twitter Track topics that are important to you
(Sanford Burnham Prebys Medical Discovery Institute) Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency--a rare disorder first described in 2012--lack sufficient water channel proteins called aquaporins. The discovery was published in Cell Reports and may help explain the disorder's wide-ranging symptoms--including the inability to produce tears, seizures and developmental delays--and opens new avenues to find therapies to treat the disorder.NEXT ARTICLE
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...