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63 results
  1. Pompe disease: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/pompe-disease
    ... Diseases Information Center Glycogen storage disease due to acid maltase deficiency Patient ... 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. 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</ ...
  4. 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 ...
  5. 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. ...
  6. 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 ...
  7. 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 ...
  8. pdfSNOMED CT July 2017 International Edition - SNOMED International Release notes 
    https://www.nlm.nih.gov/...leaseNotes_Current_en-US_INT_20170731.pdf
    ... equivalent ICD-10 maps: ID Preferred Name 722302009 Glycogen storage disease type II infantile onset (disorder) 722343009 Glycogen storage disease type ...
  9. pdfdoc_SnomedCTReleaseNotes_Current_en-US_INT_20170131.pdf 
    https://www.nlm.nih.gov/...leaseNotes_Current_en-US_INT_20170131.pdf
    ... that aren’t mapped ID Preferred Name 722302009 Glycogen storage disease type II infantile onset (disorder) 722343009 Glycogen storage disease type II late onset (disorder) This was not reported until ...
  10. Hereditary Myopathy with Early Respiratory Failure - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185330
    ... facial weakness Late-onset Pompe disease (late-onset glycogen storage disease type II) GAA AR Proximal muscle weakness Respiratory insufficiency Early ...
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