Related MeSH Hierarchy (5)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucopolysaccharidoses » Mucopolysaccharidosis IV
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Mucopolysaccharidoses » Mucopolysaccharidosis IV
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Connective Tissue Diseases » Mucinoses » Mucopolysaccharidoses » Mucopolysaccharidosis IV
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucopolysaccharidoses » Mucopolysaccharidosis IV
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Mucopolysaccharidoses » Mucopolysaccharidosis IV
Description
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. MeSH
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Approved Indicated Drugs (1)
Phase 2 Indicated Drugs (1)
Phase 1 Indicated Drugs (1)
Organization Involved with Phase 2 Indications (2)
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