{"cited_by_count":345094,"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.","display_name":"Glycogen Storage Diseases and Myoclonus","domain_id":"4","external_ids":{"openalex":"https://openalex.org/T12604","wikipedia":"https://en.wikipedia.org/wiki/Glycogen_metabolism"},"field_id":"27","id":"T12604","keywords":[{"display_name":"glycogen metabolism","id":"glycogen-metabolism","score":0.2977,"url":"https://openalex.org/keywords/glycogen-metabolism"},{"display_name":"glycogen storage disease","id":"glycogen-storage-disease","score":0.5724,"url":"https://openalex.org/keywords/glycogen-storage-disease"},{"display_name":"glycogen phosphorylase","id":"glycogen-phosphorylase","score":0.2716,"url":"https://openalex.org/keywords/glycogen-phosphorylase"},{"display_name":"glycogen synthase","id":"glycogen-synthase","score":0.2772,"url":"https://openalex.org/keywords/glycogen-synthase"},{"display_name":"glycogen storage disease type I","id":"glycogen-storage-disease-type-i","score":0.8298,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-i"},{"display_name":"glycogen storage disease type V","id":"glycogen-storage-disease-type-v","score":0.7832,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-v"},{"display_name":"Lafora disease","id":"lafora-disease","score":0.8661,"url":"https://openalex.org/keywords/lafora-disease"},{"display_name":"McArdle disease","id":"mcardle-disease","score":0.7265,"url":"https://openalex.org/keywords/mcardle-disease"},{"display_name":"glycogen storage disease type III","id":"glycogen-storage-disease-type-iii","score":0.8656,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-iii"},{"display_name":"glycogen storage disease type Ia","id":"glycogen-storage-disease-type-ia","score":0.8042,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-ia"},{"display_name":"glucose-6-phosphatase deficiency","id":"glucose-6-phosphatase-deficiency","score":0.8456,"url":"https://openalex.org/keywords/glucose-6-phosphatase-deficiency"},{"display_name":"glycogen synthase deficiency","id":"glycogen-synthase-deficiency","score":0.8439,"url":"https://openalex.org/keywords/glycogen-synthase-deficiency"},{"display_name":"Lafora bodies","id":"lafora-bodies","score":0.9279,"url":"https://openalex.org/keywords/lafora-bodies"},{"display_name":"progressive myoclonic epilepsy","id":"progressive-myoclonic-epilepsy","score":0.2588,"url":"https://openalex.org/keywords/progressive-myoclonic-epilepsy"},{"display_name":"glycogen storage disease type Ib","id":"glycogen-storage-disease-type-ib","score":0.822,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-ib"},{"display_name":"laforin","id":"laforin","score":0.9136,"url":"https://openalex.org/keywords/laforin"},{"display_name":"myophosphorylase deficiency","id":"myophosphorylase-deficiency","score":0.7748,"url":"https://openalex.org/keywords/myophosphorylase-deficiency"},{"display_name":"glycogen metabolism disorders","id":"glycogen-metabolism-disorders","score":0.8928,"url":"https://openalex.org/keywords/glycogen-metabolism-disorders"},{"display_name":"glycogen phosphorylase deficiency","id":"glycogen-phosphorylase-deficiency","score":0.8385,"url":"https://openalex.org/keywords/glycogen-phosphorylase-deficiency"},{"display_name":"glycogen storage disease type IV","id":"glycogen-storage-disease-type-iv","score":0.8163,"url":"https://openalex.org/keywords/glycogen-storage-disease-type-iv"},{"display_name":"von Gierke disease","id":"von-gierke-disease","score":0.8701,"url":"https://openalex.org/keywords/von-gierke-disease"},{"display_name":"phosphorylase kinase","id":"phosphorylase-kinase","score":0.2147,"url":"https://openalex.org/keywords/phosphorylase-kinase"},{"display_name":"EPM2A","id":"epm2a","score":0.8531,"url":"https://openalex.org/keywords/epm2a"},{"display_name":"glycogen structure","id":"glycogen-structure","score":0.6806,"url":"https://openalex.org/keywords/glycogen-structure"},{"display_name":"malin","id":"malin","score":0.6836,"url":"https://openalex.org/keywords/malin"}],"legacy_keywords":["Glycogen","Metabolism","Myoclonic Disorders","Glycogen Storage Diseases","Lafora Disease","Glucose-6-Phosphatase System","Neurodegeneration","Epilepsy","Neutrophil Dysfunction","Genetic Mutations"],"openalex_id":"https://openalex.org/T12604","source_created_date":"2024-01-23T15:27:15","source_updated_date":"2026-10-17T03:02:00","subfield_id":"2745","url":"/topics/T12604","works_api_url":"https://api.openalex.org/works?filter=topics.id:T12604","works_count":19536,"label":"Glycogen Storage Diseases and Myoclonus","provider":"openalex","revision":"8423f70bded21f77","taxonomy_revision":"f050b5d4780b1289","title":"Glycogen Storage Diseases and Myoclonus","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"38351275901774118","address_version":"morton4x16-v1","coordinates":[4,27,2745,12604],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}