Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Autor:	Strauss, Kevin A., Carson, Vincent J., Soltys, Kyle, Young, Millie E., Bowser, Lauren E., Puffenberger, Erik G., Brigatti, Karlla W., Williams, Katie B., Robinson, Donna L., Hendrickson, Christine, Beiler, Keturah, Taylor, Cora M., Haas-Givler, Barbara, Chopko, Stephanie, Hailey, Jennifer, Muelly, Emilie R., Shellmer, Diana A., Radcliff, Zachary, Rodrigues, Ashlin, Loeven, KaLynn, Heaps, Adam D., Mazariegos, George V., Morton, D. Holmes
Zdroj:	In Molecular Genetics and Metabolism March 2020 129(3):193-206
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect