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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

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

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

This essay discusses the dissemination of atrocity images in contemporary mass media, from the photographs of mass-graves in the Nazi concentration camps to the pictures of torture of Iraqi prisoners in Abu Ghraib. The central question is one of distances: the distance between the image and the event, between the picture and the beholder, and between the destroyed human body and the cultural forms

When engaging in international collaboration, researchers and research institutions have to relate to a great range of differences in legislation, scientific practices, incentive systems, and cultural norms. The research landscape has become even more complex in the last decade, and the gray zones at the intersections of a diverse set of institutional contexts may be used to push boundaries. The f

This study investigates the growth in global renewable energy use between 2000 and 2014. To identify its main contributors and their geographical distribution, a structural decomposition analysis is applied to global multi-regional input-output tables. A new variant of this type of analysis is developed that introduces energy transition (i.e. the substitution of non-renewable energy by renewable e

Purpose – The purpose of this paper is to explore the nature of brand contract in B2B from two perspectives: the theological and pragmatic.Design/methodology/approach – A review of the branding literature challenges the dominant notion of the brand covenant as a firm driven, unilateral promise, referred to as a theological contract. The study adds to this the pragmatic perspective of a social cont

A number of studies have analysed how multinational enterprises (MNEs) develop appropriate strategies for managing the institutionally different contexts of various markets. However, we still know rather little about how MNEs manage different institutional pressures when they operate in emerging markets. These markets have a higher level of uncertainty as their values and structures undergo change

A double burden of malnutrition occurs when individuals, household members or communities experience both undernutrition and overweight. Here, we show geospatial estimates of overweight and wasting prevalence among children under 5 years of age in 105 low- and middle-income countries (LMICs) from 2000 to 2017 and aggregate these to policy-relevant administrative units. Wasting decreased overall ac