108 research outputs found

    Observation of a new boson at a mass of 125 GeV with the CMS experiment at the LHC

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    Comparative analysis of labour market outcomes Lessons for the US from international long-run evidence

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    Also available via the InternetAvailable from British Library Document Supply Centre-DSC:3597.9512(no 3023) / BLDSC - British Library Document Supply CentreSIGLEGBUnited Kingdo

    Labour market institutions and demographic employment patterns

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    Also available via the InternetSIGLEAvailable from British Library Document Supply Centre-DSC:3597.9512(no 3448) / BLDSC - British Library Document Supply CentreGBUnited Kingdo

    Can untreated PKU patients escape from intellectual disability? A systematic review

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    PubMedID: 30157945Background: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients. Methods: To this purpose, we conducted a literature search in PubMed and EMBASE up to 8th of September 2017 to identify cases with 1) PKU diagnosis and start of treatment after 7 years of age; 2) untreated plasma phenylalanine concentrations ?1200 µmol/l; and 3) IQ ?80. Literature search, checking reference lists, selection of articles, and extraction of data were performed by two independent researchers. Results: In total, we identified 59 published cases of patients with late-diagnosed PKU and unexpected favorable outcome who met the inclusion criteria. Although all investigated patients had intellectual functioning within the normal range, at least 19 showed other neurological, psychological, and/or behavioral symptoms. Conclusions: Based on the present findings, the classical symptomatology of untreated or late-treated PKU may need to be rewritten, not only in the sense that intellectual dysfunction is not obligatory, but also in the sense that intellectual functioning does not (re)present the full picture of brain damage due to high plasma phenylalanine concentrations. Further identification of such patients and additional analyses are necessary to better understand these differences between PKU patients. © 2018 The Author(s)
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