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Perrault Plus Syndrome Due to the LARS2 Variant c.457A>C Manifesting With Epilepsy, Cognitive Impairment, Myopathy, Spastic Tetraparesis, and Deafness: A Case Report. [PDF]
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SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant. [PDF]
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POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings. [PDF]
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Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review. [PDF]
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Krabbe disease : cytototicity and neuroinflammation [PDF]
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