Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease
Zoheb B. Kazi(Duke Medical Center), Priya S. Kishnani(Duke Medical Center), Punita Gupta(St. Joseph’s University Medical Center), Pranoot Tanpaiboon(Children's National), Raymond Wang(Children's Hospital of Orange County), Nancy J. Mendelsohn, Kathryn L. Berrier(Duke Medical Center), Michelle Polan(Akron Children's Hospital), R. Bradley Troxler(University of Alabama at Birmingham), Ankit K. Desai(Duke Medical Center), Michal Inbar‐Feigenberg(University of Toronto), Omar Abdul‐Rahman(Cornell University), Amy S. Rosenberg(Center for Drug Evaluation and Research), Catherine Ward‐Melver(Akron Children's Hospital), David Kronn(New York Medical College), Eli Herskovitz(Soroka Medical Center)
Cited by 72
Related Papers
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
|Genetics in Medicine|2017|563
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
|Genome biology|2014|432
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
|npj Genomic Medicine|2016|377
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
|Nature Genetics|2016|361
Glycogen Storage Disease Type III diagnosis and management guidelines
|Genetics in Medicine|2010|305