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Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|November 16, 2017
Effect of an antimicrobial stewardship programme on antimicrobial utilisation and costs in patients with leukaemia: a retrospective controlled studyM So, M M Mamdani, A M Morris, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestationsNuria Puente-Ruiz, Ian Ellis, Marsel Bregu, et al.American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.Brain : a Journal of Neurology|June 23, 2007
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Simon E Olpin, Brage S Andresen, et al.Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|September 10, 2018
Prioritizing research areas for antibiotic stewardship programmes in hospitals: a behavioural perspective consensus paperM Rzewuska, E Charani, J E Clarkson, et al.Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.Pageof 12