Titlebook: JIMD Reports, Volume 18; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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,Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telepnd after adjusting for multiple covariates using generalized estimating equations. The composite scores of FD cases were marginally lower than controls before covariate adjustments (. = 0.08). QOL and mental health variables substantially attenuated this finding (. = 0.75), highlighting the influenc

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Clinical, Biochemical, and Molecular Characterization of Novel Mutations in , in Families with Tang intronic variant (c.4176-11T>G), that lead to the creation of a cryptic splice site acceptor and premature truncation, p.Ser1392Argfs*6. We demonstrate that this mutation arose de novo, the first demonstration of a pathogenic de novo mutation in . associated with Tangier disease. We also report res

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Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioransplantation was uncomplicated with full engraftment of donor cells in both..Both patients showed progressive neurological deterioration with regression of cognitive skills and behavioral disturbances during 5 years after successful UCBT, comparable to the natural history of patients with the same

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Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A TreatablThe third patient, a 34-year-old woman, had presented in infancy with a diagnosis of pernicious anemia. Mutation analysis of . revealed compound heterozygosity for a c.79+1G>A substitution and a c.973delG deletion in all three individuals. Oral or parenteral vitamin B. has led to complete recovery o

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A Cause of Permanent Ketosis: GLUT-1 Deficiency,o the deficient cerebral glucose transport by permanent ketone body production since early life. Excessive ketone body production in this patient provided an alternative energy substrate for his brain. We suggest a cerebral metabolic adaptation with upregulation of monocarboxylic acid transporter pr

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The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases,cadian transcripts suggesting a direct participation of the biological clock in the pathophysiological mechanisms underlying cellular and tissue derangements hallmarking these hereditary diseases. The 24-h periodicity of oscillation of gene transcription and translation could lead in physiological c