Diagnosis of generalized glycogen storage disease (Pompe's disease)

F. Huijing, S. van Creveld, G. Losekoot

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Generalized glycogen storage disease has been shown to result from absence of the enzyme α-glucosidase from the lysozymes of cells. The concentration of this enzyme in the leukocytes from one patient with this disorder was extremely low. It is suggested that this measurement may be useful diagnostically.

Original languageEnglish (US)
Pages (from-to)984-987
Number of pages4
JournalThe Journal of Pediatrics
Volume63
Issue number5
DOIs
StatePublished - Nov 1963

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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