Metabolic disease (inherited)

Latest Articles

Resident & Fellow Section
Pearls & Oy-sters: Chemotherapy-associated hyperammonemic encephalopathy
Joel Neves Briard, Nastasija Lezaic, Mark Robert Keezer

Neurology January 28, 2020
Article
Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
Yukiko Matsuda, Hiroyuki Morino, Ryosuke Miyamoto, et al.

Neurology Genetics January 16, 2020
Article
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
Enrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.

Neurology Genetics January 08, 2020
Article
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
Christiano R.R. Alves, Ren Zhang, Alec J. Johnstone, et al.

Neurology December 27, 2019