Infantile free sialuria without lysosomal storage

R. August Roesel, Katharyn M. Byrne, Frits Hommes, Jill Trefz, Cathy Kelloes, Anne M. Nelson, James E. Carroll

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)40-43
Number of pages4
JournalPediatric Neurology
Volume3
Issue number1
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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