Deborah L. Renaud

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Medicine, Neurology, Neuroscience +9

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura Adang, Omar Sherbini, Laura J. Ball et al. · Molecular Genetics and Metabolism · 2017 · 73 citations · Full text

Medicine, Preventive Medicine, Disease Prevention +5

Neuronal Voltage-Gated Potassium Channel Complex Autoimmunity in Children

Radhika Dhamija, Deborah L. Renaud, Sean J. Pittock et al. · Pediatric Neurology · 2011 · 60 citations

Life Sciences, Neuroscience, Pediatrics +10

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline‐normal PDH complex activity

Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay et al. · American Journal of Medical Genetics Part A · 2006 · 57 citations

Life Sciences, Genetics, Molecular Genetics +14