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Article

Tracing the origin of L-2-hydroxyglutaric aciduria in a family.

The International journal of neuroscience - 1 Jan 2009

Sass Jörn Oliver, Romrell Janet S, Vinson Sarah Y, Fernandez Hubert H, Fischer Judith, Rodriguez Ramon L, Okun Michael S

Abstract excerpt

We describe late diagnosis of an adult with L-2-hydroxyglutaric aciduria (MIM 236792) on the basis of characteristic metabolite data and mutation analysis in the L2HGDH gene. The patient lacked MRI abnormalities which have been purported to be constant or typical findings in this disease. We furt...

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PMID: 19863265
DOI: 10.1080/00207450903139655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19863265-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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