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Lysosomal disease with hypertrophic cardiomyopathy
- ... 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 ...
- Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and ...
- ... deficiency Angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease Lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum NAGA deficiency ...
- ... 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( ...
- What Are the Symptoms of Polycystic Ovary Syndrome (PCOS)? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes of Health ... Polycystic Ovary Syndrome/Symptoms
- ... of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1; ...
- ... 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 ...
- ... of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A. 2005 Feb 1; ...