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Molecular Therapy : the Journal of the American Society of Gene Therapy|April 30, 2003
Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan diseaseReuben Matalon, Sankar Surendran, Peter L Rady, et al.
Pediatrics|December 5, 2003
The Maternal Phenylketonuria International Study: 1984-2002Richard Koch, William Hanley, Harvey Levy, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplicationsPrzemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 3, 2013
A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan miceSeemin Seher Ahmed, Huapeng Li, Chunyan Cao, et al.
Molecular Cytogenetics|April 7, 2012
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disordersPatrícia Bs Celestino-Soper, Cindy Skinner, Richard Schroer, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|December 11, 2020
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCsLizhao Feng, Jianfei Chao, E Tian, et al.
The New England Journal of Medicine|February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
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