Except for two reported patients, increased free sialic acid excretion has been associated with lysosomal storage. This is a report of a child with progessive neurologic deterioration and increased excretion of free sialic acid. Although lysosomal storage was absent, nuclear invagination or inclusions were present.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Clinical Neurology