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  • 1
    Online Resource
    Online Resource
    Newborn Screening for Pompe Disease (2021)
    Basel, Switzerland : MDPI - Multidisciplinary Digital Publishing Institute
    Details
    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
    URL: kostenfrei
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    Stabi Berlin
    UB Potsdam
  • 2
    Online Resource
    Online Resource
    Newborn Screening for Pompe Disease (2021)
    Basel, Switzerland : MDPI - Multidisciplinary Digital Publishing Institute
    Details
    UID:
    almahu_9949281664902882
    Format: 1 electronic resource (146 p.)
    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
    Additional Edition: ISBN 3-0365-0580-6
    Additional Edition: ISBN 3-0365-0581-4
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    HU Berlin
  • 3
    Online Resource
    Online Resource
    Newborn Screening for Pompe Disease (2021)
    Basel, Switzerland : MDPI - Multidisciplinary Digital Publishing Institute
    Details
    UID:
    edoccha_9960409361902883
    Format: 1 electronic resource (146 p.)
    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
    Additional Edition: ISBN 3-0365-0580-6
    Additional Edition: ISBN 3-0365-0581-4
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    Charité
  • 4
    Online Resource
    Online Resource
    Newborn Screening for Pompe Disease (2021)
    Basel, Switzerland : MDPI - Multidisciplinary Digital Publishing Institute
    Details
    UID:
    edocfu_9960409361902883
    Format: 1 electronic resource (146 p.)
    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
    Additional Edition: ISBN 3-0365-0580-6
    Additional Edition: ISBN 3-0365-0581-4
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Online Resource
    FU Berlin
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