319 top medical experts on Mucolipidoses across 36 countries and 28 U.S. states, including 158 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Mucolipidoses: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. intellectual disability and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Carbohydrate Metabolism (1,325), Metabolic Bone Diseases (2,247), Nervous System Lysosomal Storage Diseases (88).
  4. Clinical Trials ClinicalTrials.gov : at least 8 including 1 Active, 3 Completed, 1 Recruiting
  5. Synonyms: Cherry Red Spot Myoclonus Syndrome,  Ganglioside Sialidase Deficiency Disease,  I-Cell Disease,  Lipomucopolysaccharidosis,  Mucolipidosis,  Myoclonus Cherry Red Spot Syndrome,  Pseudo-Hurler Polydystrophy,  Sialidosis


  

        

                    


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