Biotin metabolism disorders and epilepsy Biotinase deficiency is caused by mutations in the gene encoding biotinase ( BTD gene), with 51% of cases attributed to the homozygous c.98-104del7ins3 mutation, It is an autosomal invisible genetic disorder with an estimated prevalence of about 1 in 60,000, and 20% of patients have a history of parental consanguinity [70]
4.2 Lieber-DeCarli model One of the earliest and most frequently employed experimental models for investigating ALD in rodents is the Lieber-DeCarli model
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Lappas M, Permezel M, Rice GE: N-Acetyl-cysteine inhibits phospholipid metabolism, proinflammatory cytokine release, protease activity, and nuclear factor-kappaB deoxyribonucleic acid-binding activity in human fetal membranes in vitro
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