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Article

[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2016

Xue J, Yang Z X, Li H, Qian P, Wu Y, Jiang Y W, Liu X Y

Abstract excerpt

OBJECTIVE: To analyze the clinical and genetic characteristics of patients with pyridoxine dependent epilepsy (PDE), and build a method to detect and analyze the concentration of urinary pipecolic acid in PDE patients receiving pyridoxine treatment. METHOD: Twelve patients (8 were male, 4 were female) were diagnosed as PDE in Peking University First Hospital between April 2012 and September 2015. The clinical...

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Identifiers

PMID: 27510871
DOI: 10.3760/cma.j.issn.0578-1310.2016.08.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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