BACKGROUND AND OBJECTIVE SLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade. Meanwhile, these studies generated some issues yet to be resolved, including the pathogenicity of SLC25A13 missense mutations and the mRNA product from the mutation c.615+5G>A. This study aims to investigate the effect of a novel missense mutation...

Sezela sugar factory uses long tube climbing film evaporators of the Kestner type for first effect evaporation. The plant trial showed that the Kestner specific evaporation rate (kg/m/h) and heat transfer coefficient can be improved by increasing the tube wetting rate (kg/min/tube). Increasing the wetting rate by 62% increased the specific evaporation rate by 40%. Introduction The climbing film...

Many exper imental and t heoretical stud ies have shown that the use of active sys te ms for moni toring plant biom ass suffers from saturation problems. The possibility of overcoming t his limit by consideri ng a bist ati c configuration is t heoret ically analyzed for the case of su nflower fields. An electromagnetic model , already developed and valid ated on active and pass ive data, has be...

Accumulation of ammonia in body tissues most commonly occurs in hepatic failure. However, it may also result from a specific deficiency of an enzyme of the urea cycle (Fig., 1). Severe hyperammonaemia has been reported with deficiencies of carbamyl phosphate synthetase (Freeman et al., 1964) and ornithine transcarbamylase (Russell et al., 1962; Levin and Russell, 1967). Some increase in blood a...

We have recently identified a subfamily of mitochondrial carriers that bind calcium, and cloned ARALAR1, a member of this subfamily expressed in human muscle and brain. We have now cloned a second human ARALAR gene (ARALAR2) coding for a protein 78.3% identical to Aralar1, but expressed in liver and non-excitable tissues. Aralar2 is identical to citrin, the product of the gene mutated in type-I...

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) primarily manifests in neonates or infants with hepatomegaly, liver dysfunction, and hypoglycemia. This study investigated the functions of islet beta cells and their correlations with liver dysfunction in NICCD patients.We retrospectively analyzed clinical data on liver function and islet beta cell functions for 36 patients ...

Background. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a Mendelian disorder arising from biallelic SLC25A13 mutations, and SLC25A13 genetic analysis was indispensable for its definite diagnosis. However, conventional SLC25A13 analysis could not detect all mutations, especially obscure large insertions/deletions. This paper aimed to explore the obscure SLC25A13 muta...