221 top medical experts on Oculocerebrorenal Syndrome across 21 countries and 11 U.S. states, including 55 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Oculocerebrorenal Syndrome: A sex-linked recessive disorder affecting multiple systems including the EYE, the nervous system, and the kidney. Clinical features include congenital cataract; mental retardation; and renal tubular dysfunction (fanconi syndrome; renal tubular acidosis; X-linked hypophosphatemia or vitamin-D-resistant rickets) and scoliosis. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in phosphatidylinositol metabolism and inositol signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
  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 Genetic Diseases (2,477), Inborn Amino Acid Transport Disorders (52), Inborn Errors Renal Tubular Transport (984), Inborn Metabolic Brain Diseases (1,358), Multiple Abnormalities (3,208), X-Linked Genetic Diseases (2,304).
  4. Clinical Trials ClinicalTrials.gov : at least 4 including 2 Completed, 2 Recruiting
  5. Synonyms: Cerebrooculorenal Syndrome,  Lowe Syndrome


  

        

                    


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