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41, p = .001). Sixteen patients (84.2%) had full recovery after the treatment. The disease onset was earlier (12 years of age; IQR 6-18) in patients with homozygous c.1130 T C; p.(L377P) mutation compared to other ETFDH mutations (30 years of age; IQR 20-35) (p = .0. DISCUSSION MADD has different clinical presentations. As the patients respond favorably to treatment, early diagnosis and treatment may prevent the irreversible complications of the disease. Central nervous system (CNS) metastasis from systemic cancers can involve the b
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