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Hope for patients with Methylmalonic aciduria
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#healthandmedicine #metabolicdisorders #geneticdisorders #omics
The University Children’s Hospital Zurich is one of the leading global centers for diagnosing and treating Methylmalonic aciduria (MMA), a metabolic disorder in which affected children and adolescents often use wheelchairs and do not always survive to reach adulthood.
Patient samples from all over the world are sent to Zurich for diagnosis. In a large interdisciplinary project, scientist from various Swiss research institutions studied 210 biopsies in detail. They examined not only all of the genes (DNA) in the patient’s cells but also the RNA transcripts of these genes and many of the proteins.
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The University Children’s Hospital Zurich is one of the leading global centers for diagnosing and treating Methylmalonic aciduria (MMA), a metabolic disorder in which affected children and adolescents often use wheelchairs and do not always survive to reach adulthood.
Patient samples from all over the world are sent to Zurich for diagnosis. In a large interdisciplinary project, scientist from various Swiss research institutions studied 210 biopsies in detail. They examined not only all of the genes (DNA) in the patient’s cells but also the RNA transcripts of these genes and many of the proteins.
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