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Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.Kidney International|September 11, 2014
The urinary proteome and metabonome differ from normal in adults with mitochondrial diseaseAndrew M Hall, Annalisa Vilasi, Isabel Garcia-Perez, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiencyNandaki Keshavan, Jose Abdenur, Glenn Anderson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2022
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalitiesElla F Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, et al.Orphanet Journal of Rare Diseases|January 27, 2016
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference NetworksCarla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, et al.European Journal of Neurology|April 5, 2024
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working GroupMichelangelo Mancuso, Maria T Papadopoulou, Yi Shiau Ng, et al.JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.Journal of Inherited Metabolic Disease|November 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 PatientsErle Kristensen, Karin Naess, Martin Engvall, et al.Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Pageof 17