Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α-l-iduronidase mutations causing mucopolysaccharidosis type I
David C. Kasper(Mayo Clinic), Chike Bellarmine Item(Medical University of Vienna), Furhan Iqbal(Bahauddin Zakariya University), Lenka Dvořáková(Charles University), Olaf A. Bodamer(Broad Institute), K. Herkner, Martin Magner(Charles University), Arnold Pollak(Medical University of Vienna), J Zeman(General University Hospital in Prague)
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
Kabuki syndrome: international consensus diagnostic criteria
|Journal of Medical Genetics|2018|251