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Article

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

Journal of child neurology - 1 Oct 1994

Higgins J J, Glasgow A M, Lusk M, Kerr D S

Abstract excerpt

We report a boy with a partial deficiency of pyruvate carboxylase as documented in enzyme assays of skin fibroblasts, lymphocytes, and hepatic tissue. Magnetic resonance imaging at age 20 months demonstrated a leukodystrophic process involving the brain stem and subcortical white matter, which, except for the brain stem, improved after biotin treatment. The lymphocyte pyruvate carboxylase activity of both...

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Identifiers

PMID: 7822739
DOI: 10.1177/088307389400900421

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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