Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry
Olaf A. Bodamer(Broad Institute), William E. O’Brien(Pediatrics and Genetics), Shannon M Bloesch(Baylor College of Medicine), Anthony R. Gregg(University of Florida), Silvia Stockler-Ipsiroglu(Vienna General Hospital)
Cited by 96
Related Papers
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
|European Journal of Pediatrics|2007|535
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
|Nature Communications|2016|326
Phenylketonuria Scientific Review Conference: State of the science and future research needs
|Molecular Genetics and Metabolism|2014|271
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
|Proceedings of the National Academy of Sciences|1998|254