The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …

Skeletal dysplasias are a heterogeneous collection of genetic disorders characterized by
bone and cartilage abnormalities, and they encompass over 400 disorders. These disorders …

The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage
disorders, characterized by the accumulation of undegraded glycosaminoglycans in various …

Growth impairment together with bone and joint involvement is common to most patients
with mucopolysaccharidosis (MPS) disorders. The genetic basis for these metabolic …

The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders
characterized by deficient activity of enzymes that degrade glycosaminoglycans (GAGs) …

The leukodystrophies (LD) and leukoencephalopathies (LE) are a diverse group of
conditions involving the cerebral white and grey matter. There is heterogeneity in the clinical …

Most of the patients affected by neuronopathic forms of Mucopolysaccharidosis type II (MPS
II), a rare lysosomal storage disorder caused by defects in iduronate-2-sulfatase (IDS) …

Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis
type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is an autosomal recessive …

Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting
bone. The most important metabolic disorders that primarily influence calcium or phosphate …