Muscle glycogenosis due to phosphoglucomutase 1 deficiency

Tanya Stojkovic, John Vissing, François Petit, Monique Piraud, Mette C Orngreen, Grete Andersen, Kristl G Claeys, Claire Wary, Jean-Yves Hogrel, Pascal Laforêt

Original languageEnglish
JournalThe New England journal of medicine
Volume361
Issue number4
Pages (from-to)425-7
Number of pages3
ISSN0028-4793
DOIs
Publication statusPublished - 23 Jul 2009

Keywords

  • Adult
  • Ammonia/blood
  • Exercise/physiology
  • Glycogen Storage Disease/diagnosis
  • Humans
  • Lactic Acid/blood
  • Male
  • Muscle, Skeletal/enzymology
  • Mutation
  • Phosphoglucomutase/deficiency

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