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Article

Early-onset LBSL: how severe does it get?

Neuropediatrics - 1 Dec 2012

Steenweg M E, van Berge L, van Berkel C G M, de Coo I F M, Temple I K, Brockmann K, Mendonça C I P, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper G C, van der Knaap M S

Abstract excerpt

AIM: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is known as a relatively mild leukoencephalopathy. We investigated the occurrence of severe variants of LBSL with extensive brain magnetic resonance imaging (MRI) abnormalities. METHOD: MRIs of approximately 3,000 patients with an unknown leukoencephalopathy were retrospectively reviewed for extensive signal...

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Source

Identifiers

PMID: 23065766
DOI: 10.1055/s-0032-1329395

Genes

DARS2

Provenance

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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