IMD Research Round-Up: Untargeted metabolomics

Pharmacological chaperones in OTC deficiency

Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland

Penetrance, expressivity, and outcomes in classic galactosemia

IMD Research Round-Up: Lysosomal Storage Disorders

Adenosine Kinase

Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari

Metabolic mysteries: Incidental adrenal calcifications in a neonate

The treatment landscape in CDG

IMD Research Round-Up: Newborn Screening

ARS1 Deficiencies

Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD

Diagnostic delay in Metachromatic Leukodystrophy

IMD Research Round-Up: Glycogen Storage Disorders

Future therapies in galactosemia

Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay

Speech and Language in Batten disease

Metabolic Minds 2025

IMD Research Round-Up: Redox metabolism

ECHS1 deficiency and valine restriction