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mucopolysaccharidosis type I

См. также в других словарях:

  • Mucopolysaccharidosis — MPS I redirects here. For zhuyin or bopomofo, a phonetic system for romanizing Chinese, also known as Mandarin Phonetic Symbols I, see Bopomofo. Mucopolysaccharidosis Classification and external resources ICD 10 E76 ICD 9 …   Wikipedia

  • mucopolysaccharidosis — Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with… …   Medical dictionary

  • Mucopolysaccharidosis (MPS) — One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. The deposition of… …   Medical dictionary

  • Ocular albinism type 1 — Classification and external resources ICD 10 E70.3 OMIM 300500 DiseasesDB …   Wikipedia

  • MPS (mucopolysaccharidosis) — One of a series of inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. The deposition of… …   Medical dictionary

  • Maroteaux-Lamy syndrome — Mucopolysaccharidosis type VI; deficiency of the lysosomal enzyme arylsulphatase B; resembles Hurler s disease in some respects …   Dictionary of molecular biology

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

  • Iduronate-2-sulfatase — is a sulfatase enzyme associated with Hunter syndrome. PBB Summary section title = summary text = Iduronate 2 sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X chromosome gene that… …   Wikipedia

  • Coarse facial features — refer to a similar change in facial features in the advanced stage of certain conditions like Cretinism, Mucopolysaccharidoses etc, where affected individuals look remarkably similar due to the coarsening of their facial features. These typical… …   Wikipedia

  • List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… …   Wikipedia

  • Lysosomale Speicherkrankheit — Lysosomale Speicherkrankheiten (LSK) sind eine Gruppe von etwa 45 genetisch bedingten Stoffwechselerkrankungen, die durch Fehlfunktionen im Lysosom ausgelöst werden. Die Erkrankungen sind monogenetisch.[1] In der angelsächsischen Fachliteratur… …   Deutsch Wikipedia

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