[HTML][HTML] An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
S Pajares, RM López, L Gort, A Argudo-Ramírez… - Molecular Genetics and …, 2020 - Elsevier
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme
involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism …
involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism …
[HTML][HTML] The first central precocious puberty proteomic profiles revealed multiple metabolic networks and novel key disease-associated proteins
C Wang, Q Chen, K Yuan, M He, J Zhu, Y Fang… - Aging (Albany …, 2021 - ncbi.nlm.nih.gov
Though central precocious puberty (CPP) as a disease that seriously affects the
development of a child is increasing year by year, treatment options remain limited and is …
development of a child is increasing year by year, treatment options remain limited and is …