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Article

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia.

The Turkish journal of pediatrics - 1 Jan 2019

Gazeteci-Tekin Hande, Demir Melis, Aktan Gül, Tekgül Hasan, Gökben Sarenur

Abstract excerpt

Gazeteci-Tekin H, Demir M, Aktan G, Tekgül H, Gökben S. The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turk J Pediatr 2019; 61: 599-603. Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene. Different...

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Identifiers

PMID: 31990480
DOI: 10.24953/turkjped.2019.04.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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