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Results 1 - 10 of 10 for Glycoprotein storage disease
  1. Fucosidosis 
    Fucosidosis is a condition that affects many areas of the body, especially the brain. The symptoms of fucosidosis can vary from person to person. Affected individuals ...
    https://medlineplus.gov/genetics/condition/fucosidosis - Genetics
  2. Patient support and advocacy groups 
    ... Intermountain PKU & Allied Disorders Association International Advocate for Glycoprotein Storage Diseases International Bipolar Foundation International Dupuytren Society International Essential ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  3. NAGA gene 
    ... article on PubMed Central Michalski JC, Klein A. Glycoprotein lysosomal ... deficiency (Schindler/Kanzaki disease). J Hum Genet. 2004;49(1):1-8. ...
    https://medlineplus.gov/genetics/gene/naga - Genetics
  4. Danon disease 
    ... pass X-linked traits to their sons. Glycogen storage disease type 2B Glycogen storage disease type IIb Lysosomal glycogen storage disease with normal ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  5. Alpha-N-acetylgalactosaminidase deficiency 
    ... x. Citation on PubMed Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha- ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  6. LAMP2 gene 
    ... GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. ...
    https://medlineplus.gov/genetics/gene/lamp2 - Genetics
  7. MANBA gene 
    ... mannosidosis mice: a model for the human lysosomal storage disease. Hum Mol Genet. 2006 Feb 1;15(3): ...
    https://medlineplus.gov/genetics/gene/manba - Genetics
  8. Beta-mannosidosis 
    ... mannosidosis mice: a model for the human lysosomal storage disease. Hum Mol Genet. 2006 Feb 1;15(3): ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
  9. ADAMTSL2 gene 
    ... the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition. More About This Health Condition ... KA, Vasanji A, O'Flaherty J, Weyman CM, Apte SS. ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and ...
    https://medlineplus.gov/genetics/gene/adamtsl2 - Genetics
  10. Galactosialidosis 
    ... down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found ... Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics