Phenylbutyrate therapy for maple syrup urine disease
Nicola Brunetti‐Pierri(Federico II University Hospital), Brendan Lee(Baylor College of Medicine)
Cited by 94
Related Papers
Discovery of drug mode of action and drug repositioning from transcriptional responses
|Proceedings of the National Academy of Sciences|2010|853
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency
|EMBO Molecular Medicine|2013|138
IRF2BPL Is Associated with Neurological Phenotypes
|The American Journal of Human Genetics|2018|115
MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts
|Nature Communications|2017|96
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
|The American Journal of Human Genetics|2018|91