Neuraminidase 1 (NEU1) is considered to be the most abundant and ubiquitous mammalian
enzyme, with a broad tissue distribution. It plays a crucial role in a variety of cellular …

There are over 50 lysosomal hydrolase deficiencies, many of which cause
neurodegeneration, cognitive decline and death. In recent years, a number of broad …

Recent advances in next-generation sequencing technologies have uncovered the genetic
backgrounds of various diseases. Type 1 sialidosis (OMIM# 256550) is a rare autosomal …

Background: Sialidosis is a rare autosomal recessive disease caused by NEU1 mutations,
leading to neuraminidase deficiency and accumulation of sialic acid-containing …

Background/purpose Type 1 sialidosis is a rare autosomal recessive lysosomal storage
disease caused by Neuraminidase 1 (NEU1) gene mutations. We report a type 1 sialidosis …

Background Sialidosis type 1 is a rare inherited disorder with a high disability. No
genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported …

Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded
enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset …

Background Sialidosis is a rare disorder caused by mutations in the NEU1 gene located on
chromosome 6p21. 3, constituting a group of autosomal recessive diseases. Enzyme activity …

BACKGROUND Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a
rare autosomal recessive lysosomal storage disorder presenting in the second decade of …

Since the beginning of time, humankind has wondered about what happens in the brain.
The human brain works even while relaxing or at rest (1). Functional magnetic resonance …