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89 results
  1. Pompe Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1261
    ... Reuser AJ, van der Ploeg AT. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet. 1999; ...
  2. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114628
    ... hypertrophic cardiomyopathy. The diagnosis is based on complete deficiency of activity of the ... Following Initial Diagnosis To establish the extent of disease and needs ...
  3. Facioscapulohumeral Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1443
    ... 2 (See GNE -Related Myopathy .) Mitochondrial ... of these conditions: Limb-girdle muscular dystrophies Scapuloperoneal ...
  4. Conclusions From Draft Comparative Effectiveness Review of HSCT - Future Research Needs for Hematopoietic Stem-Cell ... 
    https://www.ncbi.nlm.nih.gov/books/NBK84479
    ... s disease, β-mannosidosis, mucolipidosis III or IV, glycogen storage disease type II ... HSCT compared with symptom management or disease natural history. All five patients ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... maltase</synonym><synonym >Lysosomal glycogen storage disease without acid maltase deficiency</synonym><synonym >X-linked pseudoglycogenosis II</synonym><synonym > ...
  6. Pompe disease 
    https://medlineplus.gov/genetics/condition/pompe-disease
    ... but they typically do not show signs and symptoms of the condition. Acid maltase deficiency Acid maltase deficiency disease Alpha-1,4-glucosidase ... disease, type II Glycogen storage disease due to acid maltase deficiency ... C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Diagnosis of glycogenosis type II. Neurology. 2008 Dec 2; ...
  7. 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</ ...
  8. Danon disease 
    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 ...
  9. Findings - Enzyme-Replacement Therapies for Lysosomal Storage Diseases - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK117223
    ... for the treatment of Type 1 Gaucher disease. Glycogen Storage Disease type II (Pompe Disease) Eight studies of alglucosidase alfa as treatment for glycogen storage disease type II (Pompe disease) are summarized in Table 10 . 72 – ...
  10. 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 ... associated with germline pathogenic variants in LAMP2. Differential Diagnosis The disorders listed in Table 3 have cardiac ...
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