T

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TRABATTI , Chiara

Last name: TRABATTI

First name: Chiara

2019 (v1)

Publication

Metadata-only

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Savasta, Salvatore Bassanese, Francesco Buschini, Chiara

Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an...

Uploaded on: April 14, 2023