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Results 1 - 7 of 7 for Lysosomal disease with hypertrophic cardiomyopathy
  1. 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
  2. Danon disease 
    ... Lysosomal glycogen storage disease with normal acid maltase Lysosomal glycogen storage disease without acid maltase deficiency X-linked pseudoglycogenosis II X-linked vacuolar cardiomyopathy and myopathy Genetic Testing Registry: Danon disease Glycogen ...
    https://medlineplus.gov/genetics/condition/danon-disease - Genetics
  3. LAMP2 gene 
    ... cardiomyopathy without the other characteristic features of Danon disease. Hypertrophic cardiomyopathy is a thickening of the heart muscle that ... Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005 Jan 27;352( ...
    https://medlineplus.gov/genetics/gene/lamp2 - Genetics
  4. Alpha-N-acetylgalactosaminidase deficiency 
    ... deficiency Angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum NAGA deficiency ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  5. GNPTAB gene 
    ... of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1; ...
    https://medlineplus.gov/genetics/gene/gnptab - Genetics
  6. Mucopolysaccharidosis type III 
    ... to build up inside the lysosomes are called lysosomal storage disorders. Researchers believe that the accumulation of ... Gilkes JA, Heldermon CD. Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014 ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  7. Mucolipidosis III alpha/beta 
    ... lysosomes, including mucolipidosis III alpha/beta, are called lysosomal storage disorders. The signs and symptoms of mucolipidosis ... of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1; ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics