BACKGROUND We investigated the functional status of adult supratentorial superficial low-grade glioma (ASS-LGG) after surgery and analyzed its relevant factors to guide the therapeutic strategy and improve the life quality of these patients. METHODS Clinical materials from January 2008 to December 2010 in 104 adults with ASS-LGG were analyzed retrospectively. The follow-up period ranged from ...

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), gal...

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal choles...

There are genetic conditions that influence production in dairy and beef cattle. The objective of this review was to describe relevant genetic conditions that have been associated with productivity and health in cattle. Genes or genomic regions that have been identified as a candidate for the condition will be included, and the genetic basis of the condition will be defined. Genes and genetic c...

Remarkable improvements in public health, nutrition, hygiene, and availability of medical services in the last 20 years have significantly reduced infant and childhood mortality in Thailand. Therefore, many rare and previously unidentified genetic disorders, which, in the past, usually led to the death of affected infants before a definitive diagnosis, have now been increasingly recognized. Rec...

A 60-year-old woman was admitted to our hospital for repeated consciousness disturbance. Blood examination showed hyperammonemia, and plasma amino acid analysis revealed a marked increase in the citrulline level. To establish a diagnosis, a percutaneous needle biopsy of the liver was performed. The determination of the urea cycle enzyme activities revealed a selective marked decrease in arginin...

400 CLINICAL CHEMISTRY, Vol. 29, No. 2, 1983 12. Carson NAJ, Scally BG, Neill DW, Carre IJ. Saccharopinuria: A new inborn error of lysine metabolism. Nature (London) 281, 679 (19681. 13. Wick H, Brechbuhler T, Girard J. Citrullinemia: Elevated serum citrulline levels in healthy siblings. Experientia 26, 823824 (1970). 14. Qureshi JA, Letarte J, Queflet R, Lemieux B. Enzymologic and metabolic st...

HIRATA, Fum o Professor KIM, Bongsoo V s t ng Professor CHONG, Song-ho Ass stant Professor YOSHIDA, Nor o Ass stant Professor MARUYAMA, Yutaka Post-Doctoral Fellow MIYATA, Tatsuh ko Post-Doctoral Fellow IKUTA, Yasuh ro Post-Doctoral Fellow ISHIZUKA, Ryosuke Post-Doctoral Fellow PHONGPHANPHANEE, Saree Graduate Student YAMAZAKI, Yum Secretary KATAYAMA, Naoko Secretary NAKAJIMA, H kar Secretary YA...