Citrin is the liver-type aspartate/glutamate carrier isoform 2 (AGC2) encoded by SLC25A13 gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin deficiency (CD) has proven a disease entity with high prevalence in south China, including Guangdong with the largest population, but CD epidemiology in this province has not been well characterized. This study aims to...

This is a formatted version of the final manuscript. Although it is almost identical to the printed version, it is not a copy of it! In a recent text on visual cognition, Houghton, Tipper, Weaver, and Shore (1996) illustrated the basic problem of selective attention by inviting their readers to imagine a fictitious peanut-eater, whose only aim is to eat peanuts. Equipped with a sensory apparatu...

*Corresponding Author Rajesh. K. Patel [email protected] The present study investigated the occurrence of an autosomal recessive genetic disease, Bovine Citrullinaemia caused by mutation in Argininosuccinate Synthase (ASS) gene, in Indian Holstein cattle. The Polymerase chain reactionRestriction fragment length polymorphism (PCR-RFLP) analysis was performed on a group of 120 Holstein bulls to...

Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD phenotype in pediatrics; however, knowledge on its genotypic and phenotypic characteristics remains limited. The present study aimed to explore novel molecular and clinical characteristics of CD. An infant suspected to have NI...

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic SLC25A13 mutations, and SLC25A13 analysis provides reliable evidences for NICCD definite diagnosis. However, novel large insertions/deletions in this gene could not be detected just by conventional DNA analysis. This study aimed to explore definite diagnostic evidences for an infant highly-suspected to h...

BACKGROUND Evidence suggests that sickle cell disease (SCD) is associated with a chronic inflammatory state. C-reactive protein (CRP) is known to modulate inflammation. Its role in the chronic inflammation of SCD may make it valuable as a therapeutic target. AIM The aim was to determine CRP levels in SCD subjects in asymptomatic steady state (ASS) and crisis and correlate these with severity ...

Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including in...

Hydrolysis of organic sulfate esters proceeds by two distinct mechanisms, water attacking at either sulfur (S-O bond cleavage) or carbon (C-O bond cleavage). In primary and secondary alkyl sulfates, attack at carbon is favored, whereas in aromatic sulfates and sulfated sugars, attack at sulfur is preferred. This mechanistic distinction is mirrored in the classification of enzymes that catalyze ...

BACKGROUND Predicting later outcome in neonates presenting with severe inborn errors of metabolism (IEM) is difficult. The assessment of the early motor repertoire is a reliable method of evaluating the integrity of the central nervous system in young infants. This method is based on an age-specific qualitative assessment of general movements (GMs, 0-8 weeks of age), fidgety movements (FMs) and...