Titlebook: JIMD Reports - Case and Research Reports, 2012/4; Garry Brown,Eva Morava,Johannes Zschocke Book 2013 SSIEM and Springer-Verlag Berlin Heid

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Autism Spectrum Disorder in a Child with Propionic Acidemia,interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions in at least 10% of cases. Although uncommon, cases of autism have also been reported in association with metabolic disorders. In this brief report, we describe the occurren

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In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography,er-recognized finding in patients with Pompe disease, but there is emerging evidence that loss of muscle function and mobility can lead to loss of mineral content and a higher risk of fracture. In addition to the mineral content, architecture is also important in determining the overall strength of

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,A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4′-epiird enzyme in the Leloir pathway of galactose metabolism. Clinical severity of epimerase deficiency ranges from potentially lethal to apparently benign, likely reflecting the extent of GALE enzyme impairment, among other factors. We report here a case study of monozygotic twins identified by newborn

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Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabbry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifestations conformable with Fabry disease. This is in contrast to the analysis of the alpha-galactosidase A activity, which is reduced in D313Y patients. We report a comprehensive clinical, biochemical and

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Nutritional Consequences of Adhering to a Low Phenylalanine Diet for Late-Treated Adults with PKU, This study describes dietary composition and nutritional status in late-diagnosed adult patients adhering to a PKU diet...: Nineteen patients, followed at Oslo University Hospital in Norway, participated; median age was 48 years (range 26–66). Subjects were mild to severely mentally retarded. Food

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Eugène F. Diekman,Carolien C. A. Boelen,Berthil H. C. M. T. Prinsen,Lodewijk IJlst,Marinus Duran,Tom. The most dramatic evidence of cardiovascular disease comes from autopsy studies on young individuals in Bogalusa. Such findings have been extended by the Pathologic Determinants of Atherosclerosis in Youth and very strong correlations occur at autopsy between ante mortem clinical cardiovascular ri