Titlebook: JIMD Reports, Volume 23; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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,The Modulatory Effects of the Polymorphisms in , 5′-Untranslated Region Upon Gene Expression Are Cerkable degree of variation with three common single nucleotide polymorphisms at nucleotide positions c.-30G>A, c.-12G>A and c.-10C>T. We have recently identified in young Portuguese stroke patients a fourth polymorphism, at c.-44C>T, co-segregating in . with the c.-12A allele. In vivo, the c.-30A al

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,The Kuvan® Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: nts aged ≥4 years with hyperphenylalaninaemia (HPA) due to BH.-responsive phenylalanine hydroxylase (PAH) deficiency, in conjunction with a phenylalanine-restricted diet, and also for the treatment of patients with BH. deficiency.../.: KAMPER is an ongoing, observational, multicentre registry with t

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Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease, weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manifestations are due to glycogen accumulation in skeletal and cardiac muscle, glycogen also accumulates in a variety of additional tissues. To improve our understanding of disease pathogenesis in l

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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA DTD). The plasma concentration of free carnitine was marginally reduced, and the concentrations of acylcarnitines (including C6, C8, and C10:1) were normal on confirmatory tests. Organic acids in urine were normal. In addition, none of the frequent Faroese . mutations (p.N32S, c.825-52G>A) which are

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