349 top medical experts on Mucopolysaccharidosis I across 49 countries and 27 U.S. states, including 192 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Mucopolysaccharidosis I: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (iduronidase) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include dwarfism; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Broader Categories (#Experts): Mucopolysaccharidoses (1,530).
- Clinical Trials : at least 54 including 5 Active, 24 Completed, 11 Recruiting
- Synonyms: Hurler's Syndrome, Hurler-Scheie Syndrome, Lipochondrodystrophy, Mucopolysaccharidosis V, Pfaundler-Hurler Syndrome, Scheie's Syndrome
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