{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","description":"This cluster of papers focuses on the metabolism of glycogen, particularly in the context of myoclonic disorders such as progressive myoclonus epilepsy and glycogen storage diseases. It explores genetic mutations, neurodegeneration, and the role of the glucose-6-phosphatase system in these conditions, shedding light on diagnosis, management, and potential therapeutic aspects.","keywords":[{"id":"https://openalex.org/keywords/glycogen-metabolism","display_name":"glycogen metabolism","score":0.2978},{"id":"https://openalex.org/keywords/glycogen-storage-disease","display_name":"glycogen storage disease","score":0.5725},{"id":"https://openalex.org/keywords/glycogen-phosphorylase","display_name":"glycogen phosphorylase","score":0.2715},{"id":"https://openalex.org/keywords/glycogen-synthase","display_name":"glycogen synthase","score":0.2773},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-i","display_name":"glycogen storage disease type I","score":0.8298},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-v","display_name":"glycogen storage disease type V","score":0.7832},{"id":"https://openalex.org/keywords/lafora-disease","display_name":"Lafora disease","score":0.8655},{"id":"https://openalex.org/keywords/mcardle-disease","display_name":"McArdle disease","score":0.7265},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-iii","display_name":"glycogen storage disease type III","score":0.8656},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-ia","display_name":"glycogen storage disease type Ia","score":0.8042},{"id":"https://openalex.org/keywords/glucose-6-phosphatase-deficiency","display_name":"glucose-6-phosphatase deficiency","score":0.8456},{"id":"https://openalex.org/keywords/glycogen-synthase-deficiency","display_name":"glycogen synthase deficiency","score":0.8439},{"id":"https://openalex.org/keywords/lafora-bodies","display_name":"Lafora bodies","score":0.9279},{"id":"https://openalex.org/keywords/progressive-myoclonic-epilepsy","display_name":"progressive myoclonic epilepsy","score":0.2585},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-ib","display_name":"glycogen storage disease type Ib","score":0.822},{"id":"https://openalex.org/keywords/laforin","display_name":"laforin","score":0.9136},{"id":"https://openalex.org/keywords/myophosphorylase-deficiency","display_name":"myophosphorylase deficiency","score":0.7748},{"id":"https://openalex.org/keywords/glycogen-metabolism-disorders","display_name":"glycogen metabolism disorders","score":0.8928},{"id":"https://openalex.org/keywords/glycogen-phosphorylase-deficiency","display_name":"glycogen phosphorylase deficiency","score":0.8385},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-iv","display_name":"glycogen storage disease type IV","score":0.8168},{"id":"https://openalex.org/keywords/von-gierke-disease","display_name":"von Gierke disease","score":0.8705},{"id":"https://openalex.org/keywords/phosphorylase-kinase","display_name":"phosphorylase kinase","score":0.2147},{"id":"https://openalex.org/keywords/epm2a","display_name":"EPM2A","score":0.8531},{"id":"https://openalex.org/keywords/glycogen-structure","display_name":"glycogen structure","score":0.6816},{"id":"https://openalex.org/keywords/malin","display_name":"malin","score":0.6836}],"legacy_keywords":"Glycogen; Metabolism; Myoclonic Disorders; Glycogen Storage Diseases; Lafora Disease; Glucose-6-Phosphatase System; Neurodegeneration; Epilepsy; Neutrophil Dysfunction; Genetic Mutations","ids":{"openalex":"https://openalex.org/T12604","wikipedia":"https://en.wikipedia.org/wiki/Glycogen_metabolism"},"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"},"siblings":[{"id":"https://openalex.org/T10105","display_name":"Osteoarthritis Treatment and Mechanisms"},{"id":"https://openalex.org/T10200","display_name":"Rheumatoid Arthritis Research and Therapies"},{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research"},{"id":"https://openalex.org/T10418","display_name":"Pelvic floor disorders treatments"},{"id":"https://openalex.org/T10499","display_name":"Folate and B Vitamins Research"},{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments"},{"id":"https://openalex.org/T11092","display_name":"Spondyloarthritis Studies and Treatments"},{"id":"https://openalex.org/T11576","display_name":"IgG4-Related and Inflammatory Diseases"},{"id":"https://openalex.org/T11991","display_name":"Soft tissue tumor case studies"},{"id":"https://openalex.org/T12110","display_name":"Bone and Dental Protein Studies"},{"id":"https://openalex.org/T12438","display_name":"Urticaria and Related Conditions"},{"id":"https://openalex.org/T12600","display_name":"Eosinophilic Disorders and Syndromes"},{"id":"https://openalex.org/T12747","display_name":"Moyamoya disease diagnosis and treatment"},{"id":"https://openalex.org/T12800","display_name":"Musculoskeletal synovial abnormalities and treatments"},{"id":"https://openalex.org/T12866","display_name":"Urologic and reproductive health conditions"},{"id":"https://openalex.org/T12960","display_name":"Heterotopic Ossification and Related Conditions"},{"id":"https://openalex.org/T13313","display_name":"Dupuytren's Contracture and Treatments"},{"id":"https://openalex.org/T13328","display_name":"Osteomyelitis and Bone Disorders Research"},{"id":"https://openalex.org/T13452","display_name":"GDF15 and Related Biomarkers"},{"id":"https://openalex.org/T13543","display_name":"Oropharyngeal Anatomy and Pathologies"},{"id":"https://openalex.org/T13962","display_name":"Omental and Epiploic Conditions"},{"id":"https://openalex.org/T14015","display_name":"Otitis Media and Relapsing Polychondritis"},{"id":"https://openalex.org/T14057","display_name":"Hypertrophic osteoarthropathy and related conditions"}],"works_count":19541,"cited_by_count":345121,"works_api_url":"https://api.openalex.org/works?filter=topics.id:T12604","updated_date":"2026-10-20T03:01:21","created_date":"2024-01-23T15:27:15"}