Aranka László

Learn More
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the MCAD gene in an extensive series of retrospective studies. To study the distribution of the G985 allele,(More)
Summary: From 1989 to 2001, 1 336 145 newborns were screened for biotinidase deficiency in Hungary. Fifty-eight children with the disorder were identified as enzyme-deficient. We have characterized the clinical and biochemical features and mutations of 20 of these children. Eleven children had profound biotinidase deficiency, 7 had partial biotinidase(More)
Using the microlymphocytotoxicity test of Terasaki, HLA--A, B, Cw antigen typing was done for 37 antigens in 28 children with steroid-sensitive nephrosis and five children with steroid-resistant nephrosis. Evaluation was made by the chi 2 test as corrected by the method of Yeates. In steroid-sensitive nephrosis the frequency of HLA--B 8 antigen was 33.3%(More)
Deletion pattern analysis of the dystrophin gene was performed in 159 Hungarian patients with Duchenne/Becker muscular dystrophy. In 116 cases (73% of total patients), exon deletions were detected by PCR amplification. In 37 patients (31.9% of patients with a deletion) one exon was deleted, while five or more exons were missing in 40 children (34.4%). With(More)
The extracellular ion milieu determines the exocytosis mechanism that is coupled to spontaneous electrical activity. The K(+) ion plays crucial role in this mechanism: as the potassium current is associated with membrane hyperpolarization and hormone release through protein cascade activation. The primary aim of this study was to investigate the response(More)
Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational-analysis studies could demonstrate that deficiency of the canalicular bile acid transporter bile salt export pump (BSEP) and mutation in ABCB11, encoding BSEP, underlay progressive familial intrahepatic cholestasis (PFIC)--or "neonatal(More)
OBJECTIVES To investigate the antioxidant defense potential of human neonates according to gestational age and mode of delivery. STUDY DESIGN Four study groups were established, full-term normal spontaneous vaginal delivery (FT-NSVD, n=24), full-term caesarean section (FT-CS, n=19), preterm normal spontaneous vaginal delivery (PT-NSVD, n=15) preterm(More)