- mucolipidosis III
- a term usually used to denote mucolipidosis III alpha/beta; it can be used to include mucolipidosis III gamma.
Medical dictionary. 2011.
Medical dictionary. 2011.
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