Titlebook: JIMD Reports, Volume 32; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inh

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Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitativeldhood experiences on adulthood is well documented amongst the general population, the aim of this study was to explore childhood experiences considered significant by women with PKU as they relate to adult experiences and management of PKU, and psychological wellbeing..: Eight women with PKU in Sou

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,The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease,o an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, whic

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Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation ocess of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening..: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening st

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