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Article

Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2018

Kamaşak Tülay, Havalı Cengiz, İnce Hülya, Eyüboğlu İlker, Çebi Alper Han, Sahin Sevim, Cansu Ali, Aydin Kursad

Abstract excerpt

BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and...

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Identifiers

PMID: 30054086
DOI: 10.1016/j.ejpn.2018.06.009

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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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