BACKGROUND Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene. Based on epidemiological surveys the incidence of MLD per 100,000 live births varied from 0.6 to 2.5. Our purpose was to estimate the birth prevalence of MLD in Poland by determining population frequency of the common pathogenic ARSA gene muta...

The excretion of sulfatides in human urine was studied. 24-hr urine collections were filtered. Urinary glycolipids were extracted from the filter paper and fractionated on diethylaminoethyl cellulose and silicic acid columns, and by thin-layer chromatography. Fatty acids and long-chain bases were analyzed by gas-liquid chromatography of the corresponding esters and aldehydes. Glycosyl ceramide ...

PURPOSE OF REVIEW Knowledge of the metabolic and genetic basis of known and previously unknown leukodystrophies is constantly increasing, opening new treatment options such as enzyme replacement or cell-based therapies. This brief review highlights some recent work, particularly emphasizing results from studies in adulthood leukodystrophies. RECENT FINDINGS Evidence from recent studies sugges...

The objective of this research was to compare the quality of carcass and meat of selected pigs in Croatia. Investigation was carried out on 80 pigs, divided into three groups. Pigs from 1 and 2 groups were threeway crossbreeds between Large White and Swedish Landrace on the dam side and Pietrain (1 group) and German Landrace (2 group) on the sire side. 3 group was created from pigs crossbreed b...