Literature DB >> 12584549

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

Eyman Shebani1, Marie Johannesson, Bo Strömberg, Godfried M Roomans.   

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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Year:  2003        PMID: 12584549     DOI: 10.1067/mpd.2003.50

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  2 in total

1.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

2.  An unusual presentation of Gaucher disease in an infant with progressive dyspnea.

Authors:  Joshua M Levy; Daniel A Glass; Kimsey H Rodriguez
Journal:  Ochsner J       Date:  2013
  2 in total

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