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Article

Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.

AJNR. American journal of neuroradiology - 1 Sept 2003

Pizzini Francesca, Fatemi Ali S, Barker Peter B, Nagae-Poetscher Lidia M, Horská Alena, Zimmerman Andrew W, Moser Hugo W, Bibat Genila, Naidu Sakkubai

Abstract excerpt

BACKGROUND AND PURPOSE: Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD. METHODS: Three boys with PMD (one with the severe connatal form and two with a more mild...

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Identifiers

PMID: 13679292
PMCID: PMC7974002

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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