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Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several mutations were characterized. We have identified, in amplified exons from nine fibroblast cell lines der
This article discusses the role of language skills, mainly with regard to foreign languages, in historical research. Three principal functions of language as a historical method are identified: 1) language skills as a tool for acquiring knowledge of the international state-of-the-art; 2) language skills as a tool for communicating research; and 3) language skills as a tool for interpreting histori
Although only about 20 m thick, the Anderso Shale contains one of the most diverse, if not the most diverse, late Middle-early Late Ordovician faunas known in Baltoscandia. It includes more than 20 trilobite species, more than 20 species of other shelly fossils, about 10 graptolite species, and about 20 conodont species. Based on its lithology, its geographical position near the foreland basin mar
We carried out a multistage genome-wide association study of type 2 diabetes mellitus in Japanese individuals, with a total of 1,612 cases and 1,424 controls and 100,000 SNPs. The most significant association was obtained with SNPs in KCNQ1, and dense mapping within the gene revealed that rs2237892 in intron 15 showed the lowest P value (6.7 x 10(-13), odds ratio (OR) = 1.49). The association of K
The paper presents results on the use of NOAA AVHRR data for desertification monitoring on a regional-global level. It is based on processing of the GIMMS 8 km global NDVI data set. Time series of annually integrated and standardized annual NDVI anomalies were generated and compared with a corresponding rainfall data set (1981-2003). The regions studied include the Mediterranean basin, the Sahel f
This special issue investigates Nordic individuals in transimperial spaces. It tracks Nordics on the move from the early modern period to the twentieth century, as they crossed imperial boundaries, and connected, networked, and operated in different spaces around the world within the framework of European global expansion. Though coming from countries with few or no formal colonies of their own, N
Many species of insects undertake long-range, seasonally reversed migrations, displaying sophisticated orientation behaviors to optimize their migratory trajectories. However, when invasive insects arrive in new biogeographical regions, it is unclear if migrants retain (or how quickly they regain) ancestral migratory traits, such as seasonally preferred flight headings. Here we present behavioral
This study delves into the phenomenon of collective market shaping in the context of multinational corporations (MNCs) in emerging markets. The study examines the firm's engagement activities and the importance of embeddedness in market shaping undeveloped in the literature. Theoretically this study builds on the literature on collective market shaping, stakeholder engagement and stakeholder embed
Multiple tipping points in the Earth system could be triggered when global warming exceeds specific thresholds. However, the degree of their impact on the East Asian hydroclimate remains uncertain due to the lack of quantitative rainfall records. Here we present an ensemble reconstruction of East Asian summer monsoon (EASM) rainfall since the Last Glacial Maximum (LGM) using nine statistical and m
A successful vaccination program depends on secure vaccine storage as well as safe and effective vaccine delivery. An Internet of Things (IoT) based vaccine distribution and monitoring model, which is used to transport and monitor vaccines to locations where they will be properly kept for eventual use, is developed and tested. Coronavirus (COVID-19) was first identified in December 2019 in Wuhan c
Det teoretiska ramverket för studie var GLOBE-studien, Hofstedes fyra dimensioner och Sveningssons och Alvessons förhållningssätt till ledarskap. Syftet var att undersöka den personliga upplevelsen hos Svenska ledare. Fokus var på hur kulturella faktorer påverkade ledarskapet när ledarna arbetade med ett utländskt team. Sex svenska ledare som hade arbetat med utländska team i USA, Indien, TysklandThe theoretical framework of the present study was the GLOBE study, Hofstede’s four dimensions and Sveningsson’s and Alvesson’s approach to leadership. The purpose was to examine the personal experience of Swedish leaders. The focus was on the influence of cultural factors on the leadership when the leaders worked with a foreign team. Six Swedish leaders who had been working with foreign teams in
This study tests whether the rise of free trade agreements (FTAs) in East Asia since 2000 has been an attempt to manage the growing complexity of trade both between members of that region and each other, as well as between them and the rest of the world. The study uses a measure of dependency based on GDP, as well as a measure of intraindustry trade as indicators. Descriptive statistics showed tha
Republicanism has been under-acknowledged within the field of International Relations. It’s been viewed as a broad school of thought, representing civic virtue, liberty and the participation of citizens. This work assists in shedding light on Republicanism as a major, alternative theory within this field. Through an idea- analysis of Republicanism which pinpoints and shows the arguments behind the
Global climate policy negotiations have become increasingly complicated with the rise of the socalled emerging powers as they have seen both great economic growth and increased emissions of greenhouse gasses – yet they continue to hold a developing country, or non-Annex I, status under the UNFCCC, which determines their responsibilities for addressing the climate crisis. This thesis examines the
