Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Research output: Contribution to journal › Journal article › Research › peer-review
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).
| Original language | English |
|---|---|
| Journal | Neurology |
| Volume | 78 |
| Issue number | 4 |
| Pages (from-to) | 265-8 |
| Number of pages | 4 |
| ISSN | 0028-3878 |
| DOIs | |
| Publication status | Published - 2012 |
ID: 48603687