In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide.
It should be considered in any child or adult with an unexplained splenohepatomegaly and …

The energy needed by cardiac muscle to maintain proper function is supplied by adenosine
Ariphosphate primarily (ATP) production through breakdown of fatty acids. Metabolic …

Objective: To review the epidemiology, pathophysiology, and treatments of Gaucher disease
(GD), focusing on the role of enzyme replacement therapy (ERT), andsubstrate reduction …

Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic
recessively inherited Mendelian disorder with a wide range of phenotypic presentations. The …

Heart failure (HF) is a progressive chronic disease that remains a primary cause of death
worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and …

Abstract Purpose of Review We give an update on the etiology and potential treatment
options of rare inherited monogenic disorders associated with arterial calcification and …

Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora
disease, Unverricht‐Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis …

Background Gaucher disease (GD) presents with a range of signs and symptoms.
Physicians can fail to recognise the early stages of GD owing to a lack of disease …

Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis
or renal failure and in diabetes. However, when present in very young individuals, it is likely …