Titlebook: JIMD Reports, Volume 38; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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Pier Luigi Calvo,Marco Spada,Ivana Rabbone,Michele Pinon,Francesco Porta,Fabio Cisarò,Stefania Reggibate, or as a guide for those looking to pursue particular lines of enquiry. ..The following chapters are organized around historical perspectives, theoretical and philosophical approaches and the use of specific biological models to inspect core ideas. Both empirical and theoretical contributions h

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Peter van Vliet,Annelies E. Berden,Mojca K. M. van Schie,Jaap A. Bakker,Christian Heringhaus,Irenaeuboth for the “causes” (and sources) and the “consequences” of selection, and for evolutionary dynamics and trajectories in general. Evolutionary biology cannot dispense with the successful populational models built with the mathematical tools and assumptions of quantitative and population genetics,

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Glutaric Acidemia Type 1: A Case of Infantile Stroke,gic findings during the 1 year of follow-up period...: This case is of great importance since it shows possibility of infantile stroke in GA-1, significance of early diagnosis and phenotypic variability of disease.

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Treatment of Depression in Adults with Fabry Disease,ed with improvements in mental health QOL and subjective pain severity, while improvements in mental health QOL were correlated with improvements in AF. While statistical comparison between counseling modes was not possible with the given sample size, relevant observations were noted. Recommendation

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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to , Gene Mutations,l management..Specific biochemical studies are indicated to identify the type of LSM, such as level of free carnitine and acyl-carnitines and studies or organic acidemia. Indeed, when a patient is biochemically diagnosed with secondary carnitine deficiency, a follow-up with appropriate clinical-mole

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Femalestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-t

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