Intermittent maple syrup disease
Olaf A. Bodamer(Broad Institute), D. Halliday(St Mary's Hospital), James V. Leonard(University College London)
Cited by 4
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
Impaired endothelial function occurs in the systemic arteries of children with homozygous homocystinuria but not in their heterozygous parents
|Journal of the American College of Cardiology|1993|253