Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency

S. Lucchiari, D. Santoro, S. Pagliarani, Giacomo P. Comi

Research output: Contribution to journalArticlepeer-review

Abstract

Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients.

Original languageEnglish
Pages (from-to)72-74
Number of pages3
JournalActa Myologica
Volume26
Issue number1
Publication statusPublished - Jul 2007

Keywords

  • AGL
  • Glycogen storage disease
  • Metabolic myopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

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