187 top medical experts on Rhizomelic Chondrodysplasia Punctata across 15 countries and 4 U.S. states, including 8 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Rhizomelic Chondrodysplasia Punctata: An autosomal recessive form of chondrodysplasia punctata characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Chondrodysplasia Punctata (465), Peroxisomal Disorders (437).
  4. Clinical Trials ClinicalTrials.gov : at least 3 including 2 Recruiting


  

        

                    


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