Emma Glamuzina

Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia

Caroline Michot, Laurence Hubert, Norma B. Romero et al. · Journal of Inherited Metabolic Disease · 2012 · 90 citations · Full text

Medicine, Physical Medicine, Physiology +8

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

Yannis Trakadis, Ahmed Alfares, Olaf A. Bodamer et al. · Journal of Inherited Metabolic Disease · 2013 · 81 citations

Agriculture, Pharmacotherapy, Clinical Nutrition +4

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

Sandra Sirrs, Carla E. M. Hollak, Martin Merkel et al. · JIMD Reports · 2015 · 63 citations · Full text

Life Sciences, Internal Medicine, Geriatric Assessment +16

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl‐tRNA synthetase, <i>RARS2</i>

Emma Glamuzina, Ruth Brown, Kieran M. Hogarth et al. · Journal of Inherited Metabolic Disease · 2011 · 59 citations

Life Sciences, Genetics, Molecular Genetics +7

Brain dopamine‐serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Jessie C. Jacobsen, Callum Wilson, Vicki Cunningham et al. · Journal of Inherited Metabolic Disease · 2015 · 54 citations

Medicine, Neurology, Neuroscience +14