LOW CREATININE: THE DIAGNOSTIC CLUE FOR A TREATABLE NEUROLOGIC DISORDER
Olaf A. Bodamer(Broad Institute), B. C. Item(Vienna General Hospital), Adolf Mühl(Medical University of Vienna), Daniela Prayer(Medical University of Vienna), Chu Tzu Hung(Vienna General Hospital), Rene Ratschmann(University of Vienna), Furhan Iqbal(Bahauddin Zakariya University)
Cited by 15
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