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J Pediatr. 2003 Feb;142(2):209-10.

A patient with type 2 Gaucher's disease with respiratory disease.

Author information

1
Departments of Medical Cell Biology, University of Uppsala, Uppsala, Sweden.

Abstract

A 5-month-old boy had respiratory problems and gastroesophageal reflux. Electron microscopy of a tracheal biopsy specimen showed accumulation of lamellar bodies in the columnar cells indicative of lysosomal storage disease. Subsequently, the child had neurologic symptoms and hepatosplenomegaly, and the diagnosis of Gaucher's disease type 2 was made.

PMID:
12584549
DOI:
10.1067/mpd.2003.50
[Indexed for MEDLINE]

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