Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study
Eur J Pediatr. 2024 Dec 19;184(1):92. doi: 10.1007/s00431-024-05931-7. ABSTRACT Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there …