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  • Title: A patient with type 2 Gaucher's disease with respiratory disease.
    Author: Shebani E, Johannesson M, Strömberg B, Roomans GM.
    Journal: J Pediatr; 2003 Feb; 142(2):209-10. PubMed ID: 12584549.
    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.
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