Metabolic disease (inherited)

Latest Articles

Article
Motor function impairment is an early sign of CLN3 disease
Willemijn F.E. Kuper, Claudia van Alfen, Linda van Eck, et al.

Neurology June 10, 2019
Article
Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I
Kelly E. King, Kyle D. Rudser, Igor Nestrasil, et al.

Neurology April 12, 2019
Resident & Fellow Section
Teaching NeuroImages: Wishbone pattern of iron accumulationA characteristic imaging sign in GM1 gangliosidosis
Prateek Malik, Karthik Muthusamy, Mahalakshmi C, et al.

Neurology April 29, 2019
Clinical/Scientific Notes
Leaky splicing variant in sepiapterin reductase deficiencyAre milder cases escaping diagnosis?
Yu Nakagama, Kohei Hamanaka, Masakazu Mimaki, et al.

Neurology Genetics March 25, 2019