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Statzer, C
172 The second more generalized syndrome is characterized by mild hemolytic anemia, persistent metabolic acidosis presenting in the newborn period, and progressive cerebral and cerebellar degeneration
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Autophagy deficiency in neurons results in buildup of ubiquitinated proteins, dystrophy of neural terminals, impairments in synaptic transmission, and eventually, neurodegeneration observed in both neurodegenerative and neurodevelopmental disorders [245, 249, 250]
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