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Article

Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2008

Zafeiriou Dimitrios I, Vargiami Euthymia, Papadopoulou Kyriaki, Dimitriou Evangelia, Mavridou Irene, Santamaria Raul, Canals Isaak, Michelakakis Helen

Abstract excerpt

We present serial clinical, magnetic resonance imaging (MRI) and neurophysiological findings of a patient with multiple sulphatase deficiency (MSD), who was first admitted at the age of 9 months, because of psychomotor retardation. MRI demonstrated extensive diffuse symmetrical high signal in the deep white matter of both cerebral hemispheres, as well as of the subcortical white matter and the brainstem, while...

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Source

Identifiers

PMID: 17881260
DOI: 10.1016/j.ejpn.2007.07.015

Genes

SUMF1

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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