Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central
hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by …

Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group
of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in …

Inborn errors of metabolism (IEM) although individually rare, together constitute a significant
proportion of childhood neurological disorders. Majority of these disorders occur due to …

Few genome‐wide association studies (GWAS) of schizophrenia have included Chinese
populations, and verification of positive genetic findings from other ethnic groups is rare in …

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder
characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a …

In contrast to most other white matter diseases discussed in this issue, leukodystrophies are
inherited disorders that result from mutations in a specific gene product or biological …

The employement of neuroimaging studies in the evaluation of individuals with
developmental delay/mental retardation (DD/MR) is still highly debated. The Consensus …

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by
mental retardation, eye anomalies, and a renal Fanconi syndrome with impaired …

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by
congenital cataracts, hypotonia, and cognitive developmental delay with renal complications …

Pediatric neurodegenerative white matter processes are complex, numerous and result from
a vast array of causes ranging from white matter injury or inflammation to congenital …