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Article

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

Brain & development - 1 Feb 2014

Lee Beom Hee, Kim Yoo-Mi, Kim Joo Hyun, Kim Gu-Hwan, Lee Byong Sop, Kim Chong Jai, Yoo Hyun Ju, Yoo Han-Wook

Abstract excerpt

Non-immune hydrops fetalis is the most severe presenting feature of lysosomal storage disorders. However, it is difficult to identify the underlying condition because the different lysosomal storage diseases share many clinical features. A neonate with hydrops fetalis is described here. A lysosomal storage disorder was first suspected when the placental biopsy showed the presence of macrophages containing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23433491
DOI: 10.1016/j.braindev.2013.01.012

Genes

NEU1

Provenance

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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