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Results 1 - 10 of 14 for Lysosomal storage disease
  1. GAA gene 
    ... alpha; acid glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) LYAG LYAG_HUMAN lysosomal alpha-glucosidase Tests of GAA PubMed GLUCOSIDASE, ALPHA, ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  2. CLN3 gene 
    The CLN3 gene provides instructions for making a protein that is found in tissues throughout the body, yet its function is unclear. The CLN3 protein is found ...
    https://medlineplus.gov/genetics/gene/cln3 - Genetics
  3. SUMF1 gene 
    The SUMF1 gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the ...
    https://medlineplus.gov/genetics/gene/sumf1 - Genetics
  4. NAGLU gene 
    ... SL, Neufeld EF. Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/naglu - Genetics
  5. CLN5 gene 
    ... Lavoie C. Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. Hum Mutat. 2013 Dec;34( ...
    https://medlineplus.gov/genetics/gene/cln5 - Genetics
  6. CLN6 gene 
    ... Braulke T. Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. Hum Mutat. 2010 Feb; ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  7. MANBA gene 
    ... Beta-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. LIPA gene 
    ... PubMed Central Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. J Pediatr Gastroenterol Nutr. 2013 ...
    https://medlineplus.gov/genetics/gene/lipa - Genetics
  9. SLC17A5 gene 
    ... SU, Gahl WA; FSASD Consortium. Free sialic acid storage disorder: Progress and ... lysosomal proteinases in health and disease. Biol Chem. 2002 May;383(5):751-6. ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  10. GBA1 gene 
    ... gene greatly reduce or eliminate the activity of lysosomal acid ... About This Health Condition Changes in the ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
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