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Article

D-bifunctional protein deficiency associated with drug resistant infantile spasms.

Brain & development - 1 Jan 2007

Buoni Sabrina, Zannolli Raffaella, Waterham Hans, Wanders Ronald, Fois Alberto

Abstract excerpt

Peroxisomal disorders appear with a frequency of about 1:5000 in newborns. Peroxisomal D-bifunctional protein (D-BP), encoded by the HSD17B4 gene (gene ID: 3294; locus tag: HGNC:5213, chromosome 5q2; official symbol: HSD17B4; name: hydroxysteroid (17-beta) dehydrogenase; gene type: protein coding...

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Source

Identifiers

PMID: 16919904
DOI: 10.1016/j.braindev.2006.06.004

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AGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16919904-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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