The Case for Performing Percutaneous Muscle Biopsy
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Dr. Cunningham writes about when and why should a muscle biopsy be considered in the evaluation of mitochondrial disease, and how to obtain a muscle biopsy.
Mitochondrial Disease News and Updates
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The Multipronged Mission of CHOP’s Mitochondrial Medicine Frontier Program
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Dr. Marni Falk provides an overview of the field of mitochondrial medicine and the role of CHOP's Mitochondrial Medicine Frontier Program in advancing research and care.
Sideroblastic Anemia Is a Red-flag Sign of Single Large-scale Mitochondrial DNA Deletion Syndrome
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Using the case of a 24-month-old African-American boy, Drs. Ganetzky and Goldstein discuss sideroblastic anemia and how it might be an indicator for multisystem mitochondrial disease.
What Would Help or Hinder Patients Joining Clinical Trials for Mitochondrial Disease?
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As clinical trials aim to attain the first FDA-approved treatments for mitochondrial disease, a study reports patient and family preferences.
In Lab Tests, Antioxidants Show Promise in Treating Mitochondrial Disease
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Systematic laboratory studies find some antioxidants should be tested in clinical trials as treatments for patients with mitochondrial disease.
Can Vitamins and Supplements Help Patients with Mitochondrial Disease?
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Lacking effective drug treatments, patients with mitochondrial disease may use many vitamins and supplements — most of which are unregulated and untested.
New Care Guidelines Cover Patients with Mitochondrial Disease
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Physicians who see patients with mitochondrial disease have a practical new tool: the first published care standards to guide clinical care.
Dr. Douglas Wallace Receives the Franklin Medal in Life Science from the Franklin Institute
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CHOP’s Douglas Wallace, a world-renowned pioneer in mitochondrial biology, received the 2017 Benjamin Franklin Medal in Life Science at the Franklin Institute.
Novel Treatments Emerging for Human Mitochondrial Diseases
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Using lithium and other drugs in cell and animal models, CHOP researchers may have broken a logjam in devising effective treatments for mitochondrial diseases.
Alternative Energy
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Niels had constant sinus infections, gastrointestinal problems, reflux and more. When his brother, Lachlan, showed the same symptoms, his parents sought treatment at The Children's Hospital of Philadelphia.