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  • 1
    Online Resource
    Online Resource
    Basel, Switzerland : MDPI - Multidisciplinary Digital Publishing Institute
    UID:
    gbv_1794558691
    Format: 1 Online-Ressource (146 p.)
    ISBN: 9783036505800 , 9783036505817
    Content: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease
    Note: English
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    UID:
    gbv_664419348
    Format: 4
    ISSN: 0009-8981
    In: Clinica chimica acta, Amsterdam : Elsevier, 1956, 411(2010), 19/20 vom: 9. Okt., Seite 1428-1431, 0009-8981
    In: volume:411
    In: year:2010
    In: number:19/20
    In: day:9
    In: month:10
    In: pages:1428-1431
    In: extent:4
    Language: Undetermined
    Library Location Call Number Volume/Issue/Year Availability
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