Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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).
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Neurology |
| Vol/bind | 78 |
| Udgave nummer | 4 |
| Sider (fra-til) | 265-8 |
| Antal sider | 4 |
| ISSN | 0028-3878 |
| DOI | |
| Status | Udgivet - 2012 |
ID: 48603687