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Article

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Ygberg Sofia, Naess Karin, Eriksson Mats, Stranneheim Henrik, Lesko Nicole, Barbaro Michela, Wibom Rolf, Wang Chen, Wedell Anna, Wickström Ronny

Abstract excerpt

UNLABELLED: We report two siblings of Swedish origin with infantile Biotin and Thiamine Responsive Basal Ganglia Disease (BTRBG). CASE REPORT: Initial symptoms were in both cases lethargia, with reduced contact and poor feeding from the age of 5 weeks. Magnetic resonance imaging showed altered signal in the basal ganglia, along with grey and white matter abnormalities. The diagnosis BTRBG was not recognized in...

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PMID: 26975589
DOI: 10.1016/j.ejpn.2016.01.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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