Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
6 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. 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 ...
  6. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114628
    ... synthesis of mtDNA precursors leading to mtDNA depletion. References Literature Cited Béhin A, Jardel C, Claeys KG, ... Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics References Chapter Notes GeneReviews Links GeneReviews Advanced Search GeneReviews ...