NAMDC: Using a Proteomics-Based Approach for Ultra-Rapid Diagnosis of Pyruvate Dehydrogenase Complex Deficiency

Nov 26, 2024 · 2m 5s

Description

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Mitochondrion on October 15, 2024, titled "An integrated multi-omics...

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Mitochondrion on October 15, 2024, titled "An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis."

Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1567724924001314?dgcid=author

Learn more about NAMDC: https://namdc.rarediseasesnetwork.org

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