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Muscle phosphorylase kinase deficiency

Authors :
Preisler, N.
Ørngreen, M.C.
Echaniz-Laguna, A.
Laforet, P.
Lonsdorfer-Wolf, E.
Doutreleau, S.
Geny, B.
Akman, H.O.
DiMauro, S.
Vissing, J.
Source :
Neurology (Ovid); January 2012, Vol. 78 Issue: 4 p265-268, 4p
Publication Year :
2012

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).

Details

Language :
English
ISSN :
00283878 and 1526632X
Volume :
78
Issue :
4
Database :
Supplemental Index
Journal :
Neurology (Ovid)
Publication Type :
Periodical
Accession number :
ejs49018568
Full Text :
https://doi.org/10.1212/WNL.0b013e31824365f9