Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials

Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

IMD Research Round-Up: Mitochondrial disease

First in human gene editing: a new era for IMD therapies

Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue

Geriatric IMD: Diagnosing inherited metabolic disorders in older adults

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