44 top medical experts on Infantile Refsum Disease across 6 countries and 4 U.S. states, including 3 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Infantile Refsum Disease: An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of refsum disease. Features include mental retardation; sensorineural hearing loss; osteoporosis; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of peroxisomes.
  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 Metabolic Brain Diseases (1,358), Peroxisomal Disorders (437).
  4. Clinical Trials ClinicalTrials.gov : at least 3 including 1 Completed, 1 Recruiting


  

        

                    


    These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads, screen scraping or using the data) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

  1. Yano, Shoji   Internal Medicine  Google Publications
    c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California , Los Angeles , California , USA. Top Hospital
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 72/100
    Disclosed payments in 2021 from 18 biomedical companies, totalling $1,642.05, including $1,010 from  SANOFI-AVENTIS U.S. LLC
    Subjects: Liver; Refsum Disease, Infantile; Zellweger Syndrome
    Categories: Pathology; Ultrastructure
    Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). (2018)

  2. Tran, Dorothy   Family Medicine  Google Publications
    Division of Pediatric Dentistry, Cincinnati Childrens Hospital Medical Center, Cincinnati, Ohio, USA.
    Physician  Case Reports 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 78.2/100
    Disclosed payments in 2021 from 4 biomedical companies, totalling $149.83, including $138.72 from  Novo Nordisk Inc
    Subjects: Dental Enamel; Refsum Disease, Infantile
    Categories: Abnormalities; Pathology
    Infantile refsum disease with enamel defects: a case report. (2011)

  3. Warren, Mikako   Pediatric Pathology  Google Publications
    a Department of Pathology and Laboratory Medicine, Childrens Hospital Los Angeles, Keck School of Medicine , University of Southern California , Los Angeles , California , USA. Top Hospital
    Physician  Case Reports 
    Subjects: Liver; Refsum Disease, Infantile; Zellweger Syndrome
    Categories: Pathology; Ultrastructure
    Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). (2018)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
These expert listings are for individual use without a fee. Biotechs, Pharmaceuticals, Recruiters, Consultants, Investors, Law firms, and other organizations may use this only for quick evaluations (no downloads or screen scraping) to identify the top medical experts for recruiting, advisory panels, boards, and consulting. Please contact us for licensing, customized queries, feedback and questions.

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