Background Homozygous familial hypercholesterolaemia is a rare genetic disorder in which
both LDL-receptor alleles are defective, resulting in very high concentrations of LDL …

Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease,
the most common lysosomal storage disorder. Parkinsonism is an established feature of …

Background— Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular
lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the …

Background Fabry disease results from deficient α-galactosidase A activity and
globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic …

Objective To measure and assess the significance of myocardial extracellular volume (ECV),
determined non-invasively by equilibrium contrast cardiovascular magnetic resonance, as …

In X‐linked hypophosphatemia (XLH), inherited loss‐of‐function mutations in the PHEX gene
cause excess circulating levels of fibroblast growth factor 23 (FGF23), leading to lifelong …

Background Cardiovascular magnetic resonance (CMR) derived native myocardial T1 is
decreased in patients with Fabry disease even before left ventricular hypertrophy (LVH) occurs …

Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder.
Although traditionally considered a primary cholesterol storage disorder, a variety of …

Objective Patients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage
disorder that causes neurodegeneration and liver damage, can present with IBD, but neither …

Background and purpose Pompe disease is a rare inheritable muscle disorder for which
enzyme replacement therapy ( ERT ) has been available since 2006. Uniform criteria for starting …