Pompe disease: from pathophysiology to therapy and back again

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase is deficient or absent.Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected.The clinical spectrum ranges from fatal hypertrophic cardiomyopa

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Bayesian salamanders: analysing the demography of an underground population of the European plethodontid Speleomantes strinatii with state-space modelling

Abstract Background It has been suggested that Plethodontid salamanders are excellent candidates for SWEETS indicating ecosystem health.However, detailed, long-term data sets of their populations are rare, limiting our understanding of the demographic processes underlying their population fluctuations.Here we present a demographic analysis based on

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