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8 results
  1. 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 ...
  2. 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</ ...
  3. 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 ...
  4. 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. ...
  5. Emery-Dreifuss Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1436
    ... 2 CNBP AD +++ – ++ No joint contractures Myopathy w/maltase acid deficiency GAA AR +++ – ++ (rare cases) No joint contractures Peculiar ... posted live 27 January 2004 (gb) Original submission References Literature Cited Aldwinckle RJ, Carr AS. The anesthetic ...
  6. Calpainopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1313
    ... II (CPT II) deficiency AR GAA Pompe disease (Glycogen storage disease type II [GSD II]) AR PYGM Glycogen storage disease type ... posted live 29 November 2004 (ca) Original submission References Literature Cited Anderson LV, Davison K, Moss JA, ...
  7. 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 ...
  8. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114628
    ... posted live 23 August 2012 (fs) Original submission References Literature Cited Béhin A, Jardel C, Claeys KG, ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...