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Description
Spinal Muscular Atrophy 13

Although rare, these severe side effects can occur, and medical professionals can effectively manage them

It forms acyl-carnitine esters with acyl-CoA derivatives, enabling entry into the mitochondrial matrix where -oxidation generates acetyl-CoA and ultimately ATP
Modulation of cell metabolic pathways and oxidative stress signaling contribute to acquired melphalan resistance in multiple myeloma cells

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For patients with metabolic disorders, early diagnosis through newborn screening is crucial to prevent severe outcomes, including irreversible brain damage, muscle degeneration, or even death