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Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

21 May 2024

Abstract excerpt

Motor neuron diseases and peripheral neuropathies are heterogeneous groups of neurodegenerative disorders that manifest with distinct symptoms due to progressive dysfunction or loss of specific neuronal subpopulations during different stages of development. A few monogenic, neurodegenerative diseases associated with primary metabolic disruptions of sphingolipid biosynthesis have been recently discovered....

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PMID: 38788085
DOI: 10.3233/jnd-240014

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