131 top medical experts on Fucosidosis across 16 countries and 5 U.S. states, including 13 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Fucosidosis: An autosomal recessive lysosomal storage disease caused by a deficiency of alpha-L-fucosidase activity resulting in an accumulation of fucose containing sphingolipids; glycoproteins, and mucopolysaccharides (glycosaminoglycans) in lysosomes. The infantile form (type I) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures, recurrent infections, and macroglossia, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
  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), Nervous System Lysosomal Storage Diseases (88).
  4. Clinical Trials ClinicalTrials.gov : at least 8 including 1 Active, 3 Completed, 1 Recruiting
  5. Synonyms: Fucosidase Deficiency Disease


  

        

                    


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