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Concept information

Preferred term

Lysosomal Storage Diseases  

Type

  • Topical Descriptor

Entry terms

  • Disorder, Lysosomal Enzyme
  • Disorders, Lysosomal Enzyme
  • Enzyme Disorder, Lysosomal
  • Enzyme Disorders, Lysosomal
  • Lysosomal Enzyme Disorder
  • Lysosomal Enzyme Disorders

Note

  • an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

History note

  • 92

In other languages

URI

http://www.yso.fi/onto/mesh/D016464

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