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Molecular Genetics and Metabolism|October 12, 2011
Natural history of propionic acidemiaLoren Pena, Jill Franks, Kimberly A Chapman, et al.Journal of Neurosurgery. Pediatrics|April 16, 2013
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosisNathan R Selden, Amira Al-Uzri, Stephen L Huhn, et al.Science Translational Medicine|October 12, 2012
Neural stem cell engraftment and myelination in the human brainNalin Gupta, Roland G Henry, Jonathan Strober, et al.Molecular Genetics and Metabolism|August 13, 2013
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) geneSirisak Chanprasert, Jing Wang, Shao-Wen Weng, et al.Neurology. Genetics|April 24, 2023
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked AdrenoleukodystrophyKeith P Van Haren, Kristen Cunanan, Avni Awani, et al.Journal of Pediatric Gastroenterology and Nutrition|August 8, 2015
Clinical Features of Lysosomal Acid Lipase DeficiencyBarbara K Burton, Patrick B Deegan, Gregory M Enns, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.Molecular Genetics and Metabolism|June 29, 2013
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolismKathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, et al.Pageof 14