BACKGROUND Riboflavin (RF) is essential for normal cellular metabolic activities. Human cells obtain RF from their surroundings via a carrier-mediated process that involves RF transporters -1, -2 & -3 (hRFVT -1, -2 & -3; products of SLC52A1, -A2 and -A3 genes, respectively). Little is known about the structural features of these transporters that are important for their function/cell biology. O...

Mitochondria are the repository for various metabolites involved in diverse energy-generating processes, like the TCA cycle, oxidative phosphorylation, and metabolism of amino acids, fatty acids, and nucleotides, which rely significantly on flavoenzymes, such as oxidases, reductases, and dehydrogenases. Flavoenzymes are functionally dependent on biologically active flavin adenine dinucleotide (...

how to cite this article: karimzadeh p, bakhshandeh bali mk, nasehi mm, taheri otaghsara sm, ghofrani m. atypical findings of guillain-barré syndrome in children. iran j child neurol autumn 2012;6(4):17-22.   abstract objective guillain-barre syndrome (gbs) is an immune-mediated polyneuropathy that occurs mostly after  prior infection. the diagnosis of this syndrome is dependent heavily on the ...

how to cite this article: ashrafzadeh f, sadrnabavi a, akhondian j, beiraghi toosi m, mohammadi mh, hassanpour k. angelman syndrome: a case report. iran j child neurol. spring 2016; 10(2):86-89. abstract objective angelman syndrome (as) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. it occurs due to an...

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 yea...

Hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. This is also called the Van Wyk Grumbach syndrome. Here we present 4 cases of precocious puberty due to hypothyroidism.

Backfat thickness (BFT) is an economically important trait for which various QTL have been detected. Two analyses of similar Meishan x European F2 pedigrees carried out in France and in The Netherlands gave different results concerning the position and the imprinting status of a QTL detected in the telomeric part of SSC2. In 2000, de Koning et al. described a paternally expressed QTL at 36 cM o...