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Article

D-bifunctional protein deficiency caused by HSD17B4 gene mutation in a neonate.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Oct 2021

Yang Shu-Mei, Cao Chuan-Ding, Ding Ying, Wang Ming-Jie, Yue Shao-Jie

Abstract excerpt

A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty...

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Identifiers

PMID: 34719423
DOI: 10.7499/j.issn.1008-8830.2107158
PMCID: PMC8549635

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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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