Allele‐specific silencing of the dominant disease allele in sialuria by RNA interference
Riko Klootwijk(National Human Genome Research Institute), Marjan Huizing(National Human Genome Research Institute), Natasha J. Caplen(Center for Human Genetics), William A. Gahl(National Institute of Child Health), Paul J.M. Savelkoul, Donna M. Krasnewich(National Institutes of Health), Carla Ciccone(National Institutes of Health), Irini Manoli(National Human Genome Research Institute)
Cited by 17
Related Papers
Lysosomal storage diseases
|Translational Science of Rare Diseases|2016|261
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
|Journal of Clinical Investigation|2007|202
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
|The American Journal of Human Genetics|2017|188
Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease
|Gastroenterology|2012|179
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
|Clinical Journal of the American Society of Nephrology|2013|153