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Results 1 - 10 of 29 for Lysosomal storage disease
  1. 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
  2. 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
  3. 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
  4. 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
  5. Beta-mannosidosis 
    ... Beta-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
  6. 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
  7. 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/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  8. CLN2 disease 
    ... classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  9. Pompe disease 
    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain ...
    https://medlineplus.gov/genetics/condition/pompe-disease - Genetics
  10. CLN10 disease 
    CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
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