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| Name | Class |
|---|---|
| Danish Research Center for Magnetic Resonance | UNKNOWN |
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The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage.
Patients with Glycogen Storage Diseases will be examined using carbon-13 MR-spectroscopy to quantify the glycogen levels in lumbar, thigh and calf-muscles. The pattern of glycogen concentration will be compared to the pattern of muscle atrophy found in the literature.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| McArdle Disease |
| ||
| Pompe disease |
| ||
| Controls |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | No intervention |
|
| Measure | Description | Time Frame |
|---|---|---|
| Glycogen concentration |
| Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with Pompe or McArdle disease and healthy controls
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Neuromuscular Research Unit, 8077 | Copenhagen | Copenhange | DK-2100 | Denmark |
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| ID | Term |
|---|---|
| D006008 | Glycogen Storage Disease |
| D006012 | Glycogen Storage Disease Type V |
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016464 | Lysosomal Storage Diseases |