A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder

by Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
Published 2024-01-01

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis

by Patrick F Chinnery, Rita Horvath, Nour Elkhateeb, Katherine Schon, Thiloka E Ratnaike, Angela Lochmüller, Christopher Gilmartin
Published 2024-06-01

Paracetamol toxicity in classic homocystinuria: Effect of N‐acetylcysteine on total homocysteine

by Nour Elkhateeb, Sarah Hyde, Sarah L. Hogg, Daniel Allsop, Arun Shankar, Patrick Deegan, Chong Y. Tan
Published 2023-05-01