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Article

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

Annals of neurology - 1 Jan 1999

van der Knaap M S, Jakobs C, Hoffmann G F, Nyhan W L, Renier W O, Smeitink J A, Catsman-Berrevoets C E, Hjalmarson O, Vallance H, Sugita K, Bowe C M, Herrin J T, Craigen W J, Buist N R, Brookfield D S, Chalmers R A

Abstract excerpt

D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxyglutaric aciduria was initiated to solve this issue. The clinical history, neuroimaging, and biochemical findings of 17 patients were studied. Ten of the patients had a...

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PMID: 9894884
DOI: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n

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Source receipt: pubmed, retrieved 7 Sept 2026.

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