244 top medical experts on Congenital Generalized Lipodystrophy across 33 countries and 16 U.S. states, including 80 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Congenital Generalized Lipodystrophy: Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of adipose tissue, extreme insulin resistance, and hypertriglyceridemia.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Lipodystrophy (3,179), Inborn Errors Lipid Metabolism (797).
  4. Clinical Trials ClinicalTrials.gov : at least 8 including 3 Active, 1 Completed, 2 Recruiting


  

        

                    


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  1. Garg, Abhimanyu   Endocrinology, Diabetes & Metabolism  ClinicalTrials.gov Google Publications
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas, USA.
    Physician  Highly Cited  Highly Published  Case Reports 
    Disclosed payments in 2021 from 3 biomedical companies, totalling $6,099, including $4,999 from  Regeneron Pharmaceuticals, Inc.
    Subjects: Lipodystrophy, Congenital Generalized; RNA-Binding Proteins; Diabetes Mellitus; Insulin Resistance; Lamin Type A; Mutation
    Categories: Genetics; Pathology; Metabolism; Diagnosis; Physiopathology
    Congenital generalized lipodystrophies--new insights into metabolic dysfunction. (2015)
    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. (2016)

  2. Brown, Rebecca J   Pediatrics   ClinicalTrials.gov Google Publications
    National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD 20814, USA.
    Physician  Highly Cited  Highly Published  Clinical Trial  Case Reports 
    Subjects: Lipodystrophy, Congenital Generalized; Leptin; Lipodystrophy; Angiopoietin-like Proteins; Bone Density; Brain Diseases
    Categories: Drug Therapy; Genetics; Analogs & Derivatives; Blood; Diagnosis; Drug Effects
    Partial and generalized lipodystrophy: comparison of baseline characteristics and response to metreleptin. (2015)
    Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. (2018)

  3. Oral, Elif A   Endocrinology, Diabetes & Metabolism  Google Publications
    Metabolism, Endocrine and Diabetes Division, Brehm Center for Diabetes, University of Michigan, Ann Arbor, MI 48109, USA.
    Physician  Highly Published  Case Reports 
    Disclosed payments in 2021 from 4 biomedical companies, totalling $15,493.4, including $9,993.4 from  Regeneron Pharmaceuticals, Inc.
    Subjects: Lipodystrophy, Congenital Generalized; Lipodystrophy; Leptin; Acyltransferases; Hypertriglyceridemia; Lamin Type A
    Categories: Metabolism; Drug Therapy; Genetics; Analogs & Derivatives; Classification; Pathology
    Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. (2018)
    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. (2018)

  4. Patni, Nivedita   Pediatric Endocrinology  Google Publications
    Division of Pediatric Endocrinology, Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA.
    Physician  Highly Published  Case Reports 
    Subjects: Lipodystrophy, Congenital Generalized; Lamin Type A; Caveolae; Caveolins; Diabetes Mellitus; Hypertriglyceridemia
    Categories: Genetics; Metabolism; Pathology
    Congenital generalized lipodystrophies--new insights into metabolic dysfunction. (2015)
    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. (2018)

  5. Schuelke, Markus    Google Publications
    Physician  Case Reports 
    Subjects: Lipodystrophy, Congenital Generalized; Arrhythmias, Cardiac; Long QT Syndrome; Mutation; RNA-Binding Proteins
    Categories: Complications; Genetics
    Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. (2010)

  6. Subauste, Angela R   Endocrinology, Diabetes & Metabolism  Google Publications
    Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
    Physician 
    Medical school: Other (MD, 1997)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 75/100
    Disclosed payments in 2021 from 32 biomedical companies, totalling $529.56, including $104.76 from  DEXCOM, INC.
    Subjects: Lipodystrophy, Congenital Generalized; Acyltransferases; PPAR gamma; Phosphatidylinositol 3-Kinase; Proto-Oncogene Proteins c-akt; Signal Transduction
    Categories: Metabolism; Genetics
    Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations. (2012)

  7. Chen, Ling     Google Publications
    State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. .
    Physician 
    Subjects: GTP-Binding Protein gamma Subunits; Insulin; Lipodystrophy, Congenital Generalized; PPAR gamma
    Categories: Metabolism; Drug Therapy
    Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression. (2020)

  8. Rader, Daniel J   Internal Medicine  Google Publications
    Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Top Hospital
    Physician  Case Reports 
    Medical school: Medical College of Pennsylvania (MD, 1984)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 78/100
    Disclosed payments in 2021 from 11 biomedical companies, totalling $240,414.54, including $220,004.43 from  Alnylam Pharmaceuticals Inc.
    Subjects: Lamin Type A; Lipodystrophy, Congenital Generalized; Mutation; Progeria
    Categories: Genetics
    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. (2018)

  9. Burant, Charles F   Endocrinology, Diabetes & Metabolism  Google Publications
    Physician 
    Subjects: Lipodystrophy, Congenital Generalized; Acyltransferases; PPAR gamma; Phosphatidylinositol 3-Kinase; Proto-Oncogene Proteins c-akt; Signal Transduction
    Categories: Metabolism; Genetics
    Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations. (2012)

  10. Hussain, Iram   Endocrinology, Diabetes & Metabolism  Google Publications
    Division of Endocrinology, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas.
    Physician  Case Reports 
    Subjects: Lamin Type A; Lipodystrophy, Congenital Generalized; Mutation; Progeria
    Categories: Genetics
    A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation. (2018)

  11. Han, Bing   Anatomic Pathology  Google Publications
    Department of Molecular Physiology and Biophysics, Vanderbilt School of Medicine, Nashville, Tennessee.
    Physician  Case Reports 
    Medical school: Other (MD, 1984)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 70/100
    Subjects: Caveolin 1; Hypertension, Pulmonary; Lipodystrophy, Congenital Generalized; Mutation
    Categories: Genetics
    Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. (2016)

  12. Zhang, Yan   Neurology  Google Publications
    Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States of America.
    Physician 
    Medicare MIPS (Merit-based Incentive Payment System) rating: 81.5/100
    Disclosed payments in 2021 from 6 biomedical companies, totalling $1,092.64, including $900 from  BANNER LIFE SCIENCES, LLC
    Subjects: Adiponectin; Leptin; Lipodystrophy, Congenital Generalized; Osteosclerosis
    Categories: Genetics
    Congenital lipodystrophy induces severe osteosclerosis. (2019)

  13. Teitelbaum, Steven L   Anatomic Pathology & Clinical Pathology  Google Publications
    Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States of America.
    Physician 
    Subjects: Adiponectin; Leptin; Lipodystrophy, Congenital Generalized; Osteosclerosis
    Categories: Genetics
    Congenital lipodystrophy induces severe osteosclerosis. (2019)

  14. Aronne, Louis J   Internal Medicine  Google Publications
    Physician 
    Disclosed payments in 2021 from 30 biomedical companies, totalling $23,246.67, including $16,336.69 from  Novo Nordisk Inc
    Subjects: Leptin; Lipodystrophy, Congenital Generalized
    Categories: Analogs & Derivatives; Drug Therapy
    Metreleptin and generalized lipodystrophy and evolving therapeutic perspectives. (2015)

  15. Martin, George M   Dermatology  Google Publications
    Department of Pathology, University of Washington, Seattle, Washington. Top Hospital
    Physician 
    Medical school: Temple University School of Medicine (MD, 1982)
    Medicare Accepted; Medicare MIPS (Merit-based Incentive Payment System) rating: 83/100
    Disclosed payments in 2021 from 66 biomedical companies, totalling $484,193.59, including $275,228.3 from  AbbVie Inc.
    Subjects: Lipodystrophy, Congenital Generalized; GTP-Binding Protein gamma Subunits; Mutation; Phenotype; Recombination, Genetic
    Categories: Genetics; Diagnosis
    High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. (2017)

  16. Péréon, Yann    Google Publications
    Centre de Référence Maladies Neuromusculaires Nantes - Angers, CHU de Nantes, Nantes, France; Atlantic Gene Therapy, Biotherapy Institute for Rare Diseases, Nantes, France.
    Physician  Case Reports 
    Subjects: Lipodystrophy, Congenital Generalized; Family Health; GTP-Binding Protein gamma Subunits; Mutation
    Categories: Genetics; Physiopathology
    Clinical and electrophysiological features in a French family presenting with seipinopathy. (2015)

  17. Straub, Volker    Google Publications
    Physician  Case Reports 
    Subjects: Lipodystrophy, Congenital Generalized; Arrhythmias, Cardiac; Long QT Syndrome; Mutation; RNA-Binding Proteins
    Categories: Complications; Genetics
    Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. (2010)

  18. Zhang, Yi   Emergency Medicine  Google Publications
    Department of Neurology.
    Physician  Case Reports 
    Medical school: University of California, Irvine, California College of Medicine (MD, 1995)
    Medicare Accepted
    Subjects: Lipodystrophy, Congenital Generalized; Myoclonic Epilepsies, Progressive
    Categories: Complications; Congenital
    Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report. (2019)

  19. Evans, Charles   Pediatrics  Google Publications
    Physician 
    Disclosed payments in 2021 from 9 biomedical companies, totalling $119.66, including $55.16 from  GlaxoSmithKline, LLC.
    Subjects: Lipodystrophy, Congenital Generalized; Acyltransferases; PPAR gamma; Phosphatidylinositol 3-Kinase; Proto-Oncogene Proteins c-akt; Signal Transduction
    Categories: Metabolism; Genetics
    Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations. (2012)

  20. Locatelli, Franco    Google Publications
    Department of Pediatric Hematology and Oncology, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy.
    Physician  Case Reports 
    Subjects: Adenovirus Vaccines; COVID-19; Lipodystrophy, Congenital Generalized
    Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4. (2022)

Note:
  1. These experts have limited publications on this topic in our database, so expertise assessment may not be accurate.
  2. Only the top 20 experts are shown. You may filter your results or use the geolocation tabs. Contact us to purchase the entire list.
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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