Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and
participates in multiple cellular metabolic processes within the cytosol, mitochondria, and …

Genetic manipulations with a robust and predictable outcome are critical to investigate gene
function, as well as for therapeutic genome engineering. For many years, knockdown …

Often thought to be a nutritional issue limited to low‐and middle‐income countries (LMICs),
pediatric thiamine deficiency (PTD) is perceived as being eradicated or anecdotal in high …

Purpose To undertake the first end-to-end cost-effectiveness analysis of exome sequencing
(ES) in rare disease diagnosis. Methods A cohort of 80 infants who underwent ES and usual …

Thiamine metabolism dysfunction syndrome 2 (THMD2) is a rare metabolic disorder caused
by SLC19A3 mutations, inherited in autosomal recessive pattern. As a treatable disease …

Beta-propeller protein-associated neurodegeneration (BPAN) was first described by Haack
et al. in 2012 [1]. Before the elucidation of its genetic etiology, the disorder was termed static …

Thiamine metabolism dysfunction syndrome type 2 is also known by other terms
including:“SCL19A3 gene defect,”“biotin-responsive basal ganglia disease”(BBGD), and …

Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early
infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 …

Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal
recessive neurometabolic disorder caused by mutations in the SLC19A3 gene. The disease …

Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable,
neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 …