Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

por Boy, Nikolas, Heringer, Jana, Brackmann, Renate
Publicado no Orphanet Journal of Rare Diseases (2017)

Área/Cota: Zs Open Access

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export

por Stalke, Amelie, Pfister, Eva-Doreen, Brackmann, Renate
Publicado no European Journal of Human Genetics (2019)

Área/Cota: Zs Open Access