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Article

Prenatal brain disruption in isolated sulfite oxidase deficiency.

Orphanet journal of rare diseases - 19 Jun 2017

Lee Hsiu-Fen, Chi Ching-Shiang, Tsai Chi-Ren, Chen Hung-Chieh, Lee I-Chun

Abstract excerpt

BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus...

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Source

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Identifiers

PMID: 28629418
DOI: 10.1186/s13023-017-0668-3
PMCID: PMC5477159

Genes

SUOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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