Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

Life Sciences, Biochemistry, Genetics +10

Neurology of hereditary metabolic diseases of children

Electroencephalography and Clinical Neurophysiology · 1997 · 245 citations

Medicine, Neurology, Pediatrics +12

Glutaric aciduria: Biochemical and morphologic considerations

Stephen I. Goodman, Michael D. Norenberg, Robert H. Shikes et al. · The Journal of Pediatrics · 1977 · 197 citations

Medicine, Biochemistry, Pediatrics +7

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

Randall A. Heidenreich, Marvin R. Natowicz, Bryan E. Hainline et al. · The Journal of Pediatrics · 1988 · 147 citations

Life Sciences, Internal Medicine, Neurology +13

Stroke in Fabry's disease

Raji P. Grewal · Journal of Neurology · 1993 · 91 citations

Life Sciences, Neurology, Cerebrovascular Surgery +3