Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Jorge Luis Ramón GómezMaria Camila Cortés-RojasMaria Jose Polania-PuentesGraciela Del Pilar Guerrero-Ruiz

Published in: Movement disorders clinical practice (2024)

We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype-genotype correlations for this rare condition.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
molecular dynamics
patient reported outcomes
smoking cessation