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Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2017, Volume 122, Issue 3, pp. 117 - 121
We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle... 
Second wind | Glycogen storage disease | Exercise | Metabolic myopathy | Phosphoglucomutase type 1 | Skeletal muscle metabolism | MEDICINE, RESEARCH & EXPERIMENTAL | GALACTOSE | PHENOTYPE | MCARDLES-DISEASE | METABOLISM | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Muscles | Physiological aspects | Glucose | Glycogen | Analysis | Dextrose
Journal Article
Annales de dermatologie et de venereologie, ISSN 0151-9638, 10/1998, Volume 125, Issue 10, p. 715
Journal Article
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2019, Volume 29, Issue 4, pp. 282 - 289
The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to... 
Glycogen storage disease | Congenital disorder of glycosylation | Whole exome sequencing | PGM1 | PHOSPHOGLUCOMUTASE | THERAPY | PHENOTYPE | NEUROSCIENCES | CLINICAL NEUROLOGY | Myoglobin | Medical colleges | Dysplasia | Genetic disorders | Creatine kinase | Glycogen | Genes | Antibodies | Muscles | Creatine | Viral antibodies | Analysis | Electrocardiogram | Genetic research | Electrocardiography | Genetic aspects
Journal Article
Diabetes Research, ISSN 0265-5985, 1987, Volume 5, Issue 4, pp. 169 - 174
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 4, pp. 370 - 376
Journal Article
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