Titlebook: JIMD Reports Volume 16; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag Berlin Heidelberg 2014 Mende

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The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Chillglutaconic and 3-methylglutaric acids in the urine. Mutations in several genes have been identified in association with 3-methylglutaconic aciduria. We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on

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,Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia,rate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from si

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vy historic anthropogenic pressures and the emergence of new human activities: fishing, harbour extension, aggregate extraction, deposition of dredged sediment, and offshore wind farms. By contrast, this area shows a high level of protection of its natural heritage, mainly owing to the Natural Reser

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Saskia B. Wortmann,Leo A. J. Kluijtmans,Silvia Sequeira,Ron A. Wevers,Eva Moravation whereas due to their intrinsic brightness, they offer the (only until now) possibility to study the stellar content and stellar behaviour in distant galaxies. The last, say, 25 years, massive stars have been the subject of numerous meetings discussing the influence of massive stars on populatio

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Politei Juan,Amartino Hernan,Schenone Andrea Beatriz,Cabrera Gustavo,Michref Antonio,Tanus Eduardo,Drtant developments of science dealing with matter and energy on cosmic and global scales. In the conventional literature all of these findings are distributed among books and journals on physics, astronomy, chemistry, geology, biology, energy, engineering, and the environmental sciences. The main pu

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Tsutomu Shimada,Shunji Tomatsu,Eriko Yasuda,Robert W. Mason,William G. Mackenzie,Yuniko Shibata,Franlopments of science dealing with matter and energy on cosmic and global scales. In the conventional literature all of these findings are distributed among books and journals on physics, astronomy, chemistry, geology, biology, energy, engineering, and the environmental sciences. The main purpose here

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