Article
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.
Molecular genetics and metabolism - 1 Jun 2018
Rodan Lance H, Hauptman Marissa, D'Gama Alissa M, Qualls Anita E, Cao Siqi, Tuschl Karin, Al-Jasmi Fatma, Hertecant Jozef, Hayflick Susan J, Wessling-Resnick Marianne, Yang Edward T, Berry Gerard T, Gropman Andrea, Woolf Alan D, Agrawal Pankaj B
Abstract excerpt
Congenital disorders of manganese metabolism are rare occurrences in children, and medical management of these disorders is complex and challenging. Homozygous exonic mutations in the manganese transporter SLC39A14 have recently been associated with a pediatric-onset neurodegenerative disorder characterized by brain manganese accumulation and clinical signs of manganese neurotoxicity, including...
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