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The molecular nature of a severe multisystemic disorder with a recurrent nonimmune hydrops fetalis was identified as deficiency of GDP-Man:GlcNAc 2-PP-dolichol mannosyltransferase, the human orthologue of the yeast ALG1 gene (MIM 605907). The disease belongs to the group of congenital disorders of glycosylation (CDG) and is designated as subtype CDG-Ik. In patient-derived serum, the total amount o

Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient

The laminar burning velocity is a fundamental property of combustiblemixtures important for kinetic model validation as well as for practicalapplications. Many efforts are directed towards its accurate determination.The heat flux method is one of the commonly recognized methodsfor measuring laminar burning velocity, however, the information on theaccuracy of the method is scattered in the literatu

Sepona Freitas and Barbosa, gen. nov. is proposed for the Neotropical satyrine butterfly species Euptychia punctata Weymer, 1911 and its junior subjective synonyms Euptychia griseola Weymer, 1911 and Taygetis indecisa Ribeiro, 1931. The new genus has a distinctive wing pattern and shape of the valvae in the male genitalia, the latter being a unique autapomorphy within the subtribe Euptychiina. Bas

Local delivery of amyloid beta oligomers from the tip of a nanopipette, controlled over the cell surface, has been used to deliver physiological picomolar oligomer concentrations to primary astrocytes or neurons. Calcium influx was observed when as few as 2000 oligomers were delivered to the cell surface. When the dosing of oligomers was stopped the intracellular calcium returned to basal levels o

This thesis employs an international comparative perspective to empirically analyse the Czech energy transition between 1830 and 2010. It addresses the utilization of energy in shaping modern economic growth through structural and technological change and the implications of those changes on specialization and foreign trade. New historical data is collected and utilized to investigate the impact o

Hematopoietic stem cells (HSCs) compose a rare population of undifferentiated cells, residing in the bone marrow of adult individuals, ensuring life-long maintenance and replenishment of the blood system. This fantastic achievement is possible owing to two special characteristics of the HSCs: their ability to make copies of themselves (self-renew), and their capacity to differentiate to all lineag

As automatic sensing and Information and Communication Technology (ICT) get cheaper, building monitoring data is easier to obtain. The abundance of data leads to new opportunities in the context of energy efficiency in buildings. This paper describes ongoing developments and first results of data-driven grey-box modelling for buildings. A Python toolbox is developed based on a Modelica library wit

Cleveland (1979) is usually credited with the introduction of the locally weighted regression, Loess. The concept was further developed by Cleveland and Devlin (1988). The general idea is that for an arbitrary number of explanatory data points x_i the value of a dependent variable is estimated ŷ_i. The ŷ_i is the fitted value from a dth degree polynomial in x_i

Background: Terlipressin has been suggested as the ideal drug to treat anesthesia-induced hypotension in patients under long-term renin-angiotensin system inhibitor treatment for arterial hypertension. The authors compared the effects of terlipressin and norepinephrine on systemic hemodynamic parameters and gastric mucosal perfusion using a laser Doppler flowmetry technique in patients treated wit

The challenge how to assist enterprises more effectively within industrial hot spots of the Danube River Basin in order to meet environmental standards while enhancing their competitiveness was addressed by the project Transfer of Environmentally Sound Technology (TEST). New, integrated approaches were developed and found to be effective in fostering organizational learning and helping to ensure i

Popular Abstract in Swedish POPULÄRVETENSKAPLIG SAMMANFATTNING PÅ SVENSKA Kadmium är en giftig metall vilken finns i mat som vi rekommenderas äta mycket av, exempelvis sädesprodukter, grönsaker och skaldjur. Våra matjordar är kontaminerade med kadmium och föroreningen kommer att kvarstå under mycket lång tid framöver. Kadmium skadar framförallt njurarna och skelettet och kan antagligen även orsaAbstract: Cadmium (Cd) is ubiquitous in the environment. Human exposure in non-smokers occurs mainly via intake of healthy food like vegetables, cereals, and shellfish. Adverse health effects on kidney and bone at low-level environmental Cd exposure are well-documented in adults. There is considerable inter-individual variation in both metabolism (toxicokinetics) and toxicity (toxicodynamics) of C

A major interest in the gall-inducing thrips of Australia began with the discovery that some species have eusocial colonies. The origin of social castes remains one of the outstanding questions in evolutionary biology. The inference of the ancestral stage from study of solitary species is important to understanding the evolutionary history of semiochemicals in social species. Here we investigated