Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

N Preisler, M C Orngreen, A Echaniz-Laguna, P Laforet, E Lonsdorfer-Wolf, S Doutreleau, B Geny, H O Akman, S Dimauro, J Vissing

38 Citationer (Scopus)

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).
OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind78
Udgave nummer4
Sider (fra-til)265-8
Antal sider4
ISSN0028-3878
DOI
StatusUdgivet - 2012

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