TY  - GEN
AU  - Kollberg,Gittan
AU  - Tulinius,Már
AU  - Gilljam,Thomas
AU  - Ostman-Smith,Ingegerd
AU  - Forsander,Gun
AU  - Jotorp,Peter
AU  - Oldfors,Anders
AU  - Holme,Elisabeth
TI  - Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
SN  - 1533-4406
PY  - 2007///1016
KW  - Biopsy
KW  - Cardiomyopathy, Hypertrophic
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Exercise Tolerance
KW  - Female
KW  - Glucose Tolerance Test
KW  - Glycogen
KW  - analysis
KW  - Glycogen Storage Disease
KW  - Glycogen Synthase
KW  - deficiency
KW  - Homozygote
KW  - Humans
KW  - Liver Glycogen
KW  - Male
KW  - Mitochondria
KW  - metabolism
KW  - Muscle, Skeletal
KW  - enzymology
KW  - Myocardium
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1056/NEJMoa066691
ER  -