Metabolic disease (inherited)

Latest Articles

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
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
NeuroImages
Diagnostic challengeA case of late-onset spinal form cerebrotendinous xanthomatosis
Dilek Mutlu, Aslı Tuncer, Rahsan Gocmen, et al.

Neurology February 25, 2019
Article
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M.L. Stelten, Hidde H. Huidekoper, Bart P.C. van de Warrenburg, et al.

Neurology December 07, 2018