mucolipidosis III

mucolipidosis III
a term usually used to denote mucolipidosis III alpha/beta; it can be used to include mucolipidosis III gamma.

Medical dictionary. 2011.

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  • mucolipidosis — trastornos metabólicos caracterizados por una acumulación de mucopolisacáridos y lípidos en los tejidos, pero sin un exceso de mucopolisacáridos en la orina. Las mucolipidosis incluyen la enfermedad de células con inclusiones (mucolipidosis II)… …   Diccionario médico

  • mucolipidosis IIIC — mucolipidosis III gamma a rare variant form of mucolipidosis; it is an autososmal recessive disorder due to mutation in the GNPTG gene (locus: 16p), which encodes the gamma subunit of UDP N acetylglucosamine–lysosomal enzyme N acetylglucosamine …   Medical dictionary

  • mucolipidosis IIIA — mucolipidosis III alpha/beta an autososmal recessive disorder due to mutation in the same gene as in mucolipidosis II alpha/beta; more residual enzyme activity remains and the clinical characteristics are milder. Called also pseudo Hurler… …   Medical dictionary

  • Mucolipidosis — Classification and external resources ICD 10 E77.0 E77.1 ICD 9 …   Wikipedia

  • Mucolipidosis type IV — Classification and external resources ICD 10 E75.1 OMIM 252650 DiseasesDB …   Wikipedia

  • mucolipidosis tipo III — Eng. Type III mucolipidosis Ver síndrome de pseudo Hurler …   Diccionario de oftalmología

  • mucolipidosis — Any of a group of lysosomal storage diseases in which symptoms of visceral and mesenchymal mucopolysaccharide, glycoprotein, oligosaccharide, or glycolipid storage are present; clinically, they bear a superficial resemblance to the mu …   Medical dictionary

  • ML I, II, III, IV — mucolipidosis I, II, III, IV …   Medical dictionary

  • ML I, II, III, IV — • mucolipidosis I, II, III, IV …   Dictionary of medical acronyms & abbreviations

  • variant pseudo-Hurler polydystrophy — mucolipidosis III gamma …   Medical dictionary

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