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Article

[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014

Yoshimoto Takeshi, Himeno Takahiro, Takeshima Shinichi, Neshige Shuichiro, Yamada Kenichiro, Yamada Yasukazu, Kuriyama Masaru

Abstract excerpt

An 18-year-old man was admitted to our hospital because of convulsive seizure. He had psychomotor retardation and intellectual disability from childhood, and had been diagnosed with attention deficit-hyperactivity disorder when he was 12 years old. He showed mental deficit (Wechsler Adult Intelligence Scale-Revised: IQ 52) and tendon hyperreflexia without pathological reflexes, but no involuntary movements or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25420563
DOI: 10.5692/clinicalneurol.54.892

Genes

APRT

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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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