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Results 1 - 10 of 43 for Lysosomal storage disease
  1. Alpha-N-acetylgalactosaminidase deficiency 
    ... Angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum NAGA deficiency type I NAGA ...
    https://medlineplus.gov/genetics/condition/schindler-disease - Genetics
  2. Niemann-Pick disease 
    Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into ...
    https://medlineplus.gov/genetics/condition/niemann-pick-disease - Genetics
  3. Gaucher disease 
    ... gene greatly reduce or eliminate the activity of lysosomal acid glucosylceramidase. Without enough of this ... This condition is inherited in an autosomal ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  4. 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
  5. Multiple sulfatase deficiency 
    Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  6. 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
  7. 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
  8. Geleophysic dysplasia 
    Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and ...
    https://medlineplus.gov/genetics/condition/geleophysic-dysplasia - Genetics
  9. 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
  10. 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
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