Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
Carmen Stromberger(Berlin Institute of Health at Charité - Universitätsmedizin Berlin), Sylvia Stöckler‐Ipsiroglu(Vienna General Hospital), Olaf A. Bodamer(Broad Institute)
Cited by 130
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
Kabuki syndrome: international consensus diagnostic criteria
|Journal of Medical Genetics|2018|251