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Journal of Inherited Metabolic Disease|March 31, 2022
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemiaMichael A Swanson, Kristen Miller, Sarah P Young, et al.Journal of Inherited Metabolic Disease|June 5, 2024
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemiaMichael A Swanson, Hua Jiang, Nicolas Busquet, et al.Biorxiv : the Preprint Server for Biology|April 8, 2024
Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemiaMichael A Swanson, Hua Jiang, Nicolas Busquet, et al.JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.Mitochondrion|January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingKathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.Pediatric Neurology|April 2, 2017
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic AcidEmmanuel Scalais, Elise Osterheld, Christiane Weitzel, et al.The Journal of Pediatrics|January 11, 2016
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic HyperglycinemiaKendra J Bjoraker, Michael A Swanson, Curtis R Coughlin, et al.Human Molecular Genetics|January 2, 2017
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assemblyMarisa W Friederich, Alican J Erdogan, Curtis R Coughlin, et al.Mitochondrion|February 21, 2017
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiencyMariella T Simon, Bobby G Ng, Marisa W Friederich, et al.Mitochondrion|October 16, 2024
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosisRodrigo T Starosta, Austin A Larson, Naomi J L Meeks, et al.Pageof 5