Concepedia

Familial intermittent ataxia with possible X-linked recessive inheritance

I.R. Livingstone, D. Gardner‐Medwin, R. J. Pennington

Journal of the Neurological Sciences · 1984 · 27 citations · 21 references

DOI

Concepts

References

21

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

John P. Blass, Joel Avigan, B. William Uhlendorf · Journal of Clinical Investigation · 1970 · 254 citations · Full text

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Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.

F.A. Hommes, H. A. Polman, J. D. Reerink · Archives of Disease in Childhood · 1968 · 198 citations · Full text

, , +6

Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia

John P. Blass, Ruth Kark, Nirmala K. Menon et al. · New England Journal of Medicine · 1976 · 131 citations

, , +13

Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency

Rena E. Falk, Stephen D. Cederbaum, John P. Blass et al. · PEDIATRICS · 1976 · 111 citations

, , +16

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

John P. Blass, Ruth Kark, W. King Engel · Archives of Neurology · 1971 · 98 citations

, , +16