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Results 1 - 10 of 41 for Lysosomal storage disease
  1. Schindler disease 
    ... Angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum NAGA deficiency Neuroaxonal dystrophy, Schindler ...
    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 
    Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected ...
    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. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. Danon disease 
    ... disease type 2B Glycogen storage disease type IIb Lysosomal glycogen storage disease with normal acid maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
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