Phenylbutyrate therapy for maple syrup urine disease - Brunetti-Pierri, Nicola; Lanpher, Brendan; Erez, Ayelet; Ananieva, Elitsa A.; Islam, Mohammad; Marini, Juan C.; Sun, Qin; Yu, Chunli; Hegde, Madhuri; Li, Jun; Wynn, R. Max; Chuang, David T.; et al. (Human molecular genetics, 2011)
Keywords: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - blood; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) - metabolism; Adolescent; Adult; Amino Acids, Branched-Chain - blood; Amino Acids, Branched-Chain - metabolism; Aminoacid disorders; Animals; Biological and medical sciences; Cells, Cultured; Child; Child, Preschool; Errors of metabolism; Female; Fibroblasts - drug effects; Fibroblasts - enzymology; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Humans; Inhibitory Concentration 50; Keto Acids - blood; Keto Acids - metabolism; Male; Maple Syrup Urine Disease - blood; Maple Syrup Urine Disease - drug therapy; Maple Syrup Urine Disease - enzymology; Medical sciences; Metabolic diseases; Mice; Mice, Inbred C57BL; Molecular and cellular biology; Phenylbutyrates - metabolism; Phenylbutyrates - pharmacology; Phenylbutyrates - therapeutic use; Phosphorylation - drug effects; Young Adult; Nervous system diseases; Treatment; Leucinosis; Metabolic diseases; Genetics; Phenylbutyrate; Enzymopathy; Aminoacid disorder; Genetic disease