NAMDC: Using a Proteomics-Based Approach for Ultra-Rapid Diagnosis of Pyruvate Dehydrogenase Complex Deficiency
26 de nov. de 2024 ·
2m 5s
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Descripción
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...
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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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Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1567724924001314?dgcid=author
Learn more about NAMDC: https://namdc.rarediseasesnetwork.org
Información
| Autor | RDCRN |
| Organización | RDCRN |
| Página web | - |
| Etiquetas |
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