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88 results
  1. Pompe disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/pompe-disease
    ... Diseases Information Center Glycogen storage disease due to acid maltase deficiency ... PubMed References Bembi B, Cerini E, Danesino C, Donati MA, ...
  2. GAA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gaa
    ... glucosidase, alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal ... References Fukuda T, Roberts A, Plotz PH, Raben N. ...
  3. Pompe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1261
    ... organizations. For information on selection criteria, click here . Acid Maltase Deficiency Association (AMDA) Phone: 210-494-6144 Email: info@ ... Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name><other_name >Lysosomal glycogen storage disease without acid maltase deficiency</other_name><other_name >X-linked pseudoglycogenosis II</ ...
  5. Facioscapulohumeral Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1443
    ... 2 (See GNE -Related Myopathy .) Mitochondrial myopathies Adult acid maltase deficiency (See Pompe Disease .) Congenital myopathies Polymyositis More troublesome ...
  6. Danon Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554742
    ... II Antopol disease Lysosomal glycogen storage disease without acid maltase deficiency Prevalence Danon disease is rare; measures of the ... posted live 25 July 2019 (mrgt) Original submission References Literature Cited Boucek D, Jirikowic J, Taylor M. ...
  7. Danon disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/danon-disease
    ... normal acid maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy ...
  8. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Fucosidosis C10.228.140.163.100.435.340 Glycogen Storage Disease Type II C10.228.140.163.100.435.590 Mucolipidoses ... 295 Fucosidosis C16.320.565.189.435.340 Glycogen Storage Disease Type II C16.320.565.189.435.590 Mucolipidoses C16. ...
  9. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Nyhan Syndrome Lysosomal Storage Diseases, Nervous System Fucosidosis Glycogen Storage Disease Type II Mucolipidoses Sialic Acid Storage Disease Sphingolipidoses Fabry Disease ...
  10. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Fucosidosis C10.228.140.163.100.435.340...........................................Glycogen Storage Disease Type II C10.228.140.163.100.435.590...........................................Mucolipidoses ...
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