Researchers from the Mitochondrial Medicine Frontier Program at Children's Hospital of Philadelphia (CHOP) have demonstrated how one combination of therapies may be beneficial for patients with mitochondrial respiratory chain ...
Mar 2, 2021
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4
A genetically engineered clotting factor that controlled hemophilia in an animal study offers a novel potential treatment for human hemophilia and a broad range of other bleeding problems.
Oct 23, 2011
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A new study led by researchers at Children's Hospital of Philadelphia (CHOP) shows that a set of simple questionnaires can help clinicians and families better evaluate the quality of life of people diagnosed with autism spectrum ...
Mar 23, 2020
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An international panel led by a pediatric neuroimmune expert and co-director of the Neuroscience Center at Children's Hospital of Philadelphia (CHOP) has established new criteria for properly diagnosing myelin oligodendrocyte ...
Feb 16, 2023
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An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators' case report reflects the potential ...
Sep 20, 2016
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A new study involving researchers from Children's Hospital of Philadelphia (CHOP) has uncovered genetic clues that may help identify which patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) might develop schizophrenia. ...
Nov 10, 2020
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In the largest genetic study to date of a challenging immunodeficiency disorder, scientists have identified a gene that may be a "missing link" between overactive and underactive immune activity. The gene candidate also plays ...
Apr 22, 2015
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381
While most cases of type 1 diabetes are classified as autoimmune diseases, a minor proportion of these patients have non-immune-mediated type 1 diabetes, sometimes referred to as type 1 B diabetes. Researchers from Children's ...
Aug 27, 2021
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255
Researchers at Children's Hospital of Philadelphia (CHOP) have found that children with a rare food allergy known as food protein-induced enterocolitis syndrome, or FPIES, have a significantly higher chance of being diagnosed ...
Mar 5, 2020
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6
Medical researchers have identified a key signaling protein that regulates hemoglobin production in red blood cells, offering a possible target for a future innovative drug to treat sickle cell disease (SCD). Experiments ...
Jul 19, 2018
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