@article{2289bb0f6c584dec8f781e0f68d09633,
title = "Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?",
abstract = "To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).",
keywords = "Adult, Aged, Ammonia, Biopsy, Carbohydrate Metabolism, Creatine Kinase, Exercise, Exercise Test, Forearm, Genetic Variation, Glycogen, Glycogen Storage Disease, Glycogen Storage Disease Type V, Glycogenolysis, Humans, Ischemia, Lactates, Lipid Metabolism, Male, Muscle, Skeletal, Oxygen Consumption, Pain, Phenotype, Phosphorylase Kinase, Regional Blood Flow",
author = "N Preisler and Orngreen, {M C} and A Echaniz-Laguna and P Laforet and E Lonsdorfer-Wolf and S Doutreleau and B Geny and Akman, {H O} and S Dimauro and J Vissing",
year = "2012",
doi = "10.1212/WNL.0b013e31824365f9",
language = "English",
volume = "78",
pages = "265--8",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams & Wilkins",
number = "4",
}