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94 results
  • GeneReviews®: Mucolipidosis III Alpha/Beta [BOOK]
    University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya ALeroy JG, Cathey SS, … Friez MJBOOK
  • Mucolipidosis alpha/beta (ML III alpha/beta; pseudo-Hurler polydystrophy), a slowly progressive disorder with clinical onset at approximately age three years, is characterized by slow growth rate and subnormal stature; radiographic evidence of mild to moderate dysostosis multiplex; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; …
  • Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. [Case Reports]
    Dentomaxillofac Radiol 2013; 42(4):22822014Khalifa H, Grubisa HS, … Lam EW
  • Mucolipidosis Type III, or pseudo-Hurler polydystrophy, is a rare genetic abnormality, the result of a mutation to one of two genes that encode the hexameric protein N-acetylglucosaminyl-1-phosphotransferase (Glc-NAc-PT). The abnormality results in the accumulation of unprocessed macromolecules in cell and tissue compartments throughout the body. In this case report, we describe the clinical and …
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