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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Treatment of Depression in Adults with Fabry Disease,n, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial eff

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Femaly disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to

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Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiens in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral .,.-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS...: We designed a partial or total progressive

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GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in ,, is almost indistinguishable from Tay-Sachs disease (OMIM 272800) or Sandhoff disease (OMIM 268800); however, traditionally available biochemical screening tests will most likely reveal normal results. We report a 2-year-old male with initially normal development until the age of 9 months, when he p