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FERNÁNDEZ KHOURY , Aida

Last name: FERNÁNDEZ KHOURY

First name: Aida

January 31, 2023 (v1)

Publication

Metadata-only

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation

Álvarez Córdoba, Mónica Fernández Khoury, Aida Villanueva Paz, Marina

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. The most prevalent form of NBIA is pantothenate...

Uploaded on: February 28, 2023