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dc.contributor.author Olkhovych, N. V. en
dc.contributor.author Pichkur, N. A. en
dc.contributor.author Ivanova, T. P. en
dc.contributor.author Gorovenko, N. G. en
dc.contributor.author Sinchuk, N. I. en
dc.date.accessioned 2018-02-26T12:39:14Z
dc.date.available 2018-02-26T12:39:14Z
dc.date.issued 2011
dc.identifier.citation Clinical presentation of a patient with a severe form of pompe disease / N. I. Sinchuk, N. V. Olkhovych, N. A. Pichkur [et al.] // Clinical Therapeutics. - 2011.- № 33. - Р. 13. en
dc.identifier.uri https://dspace.vnmu.edu.ua/123456789/2036
dc.description.abstract Pompe disease is a lysosomal storage disorder resulting from a deficiency of lysosomal acid a-gluco-sidase (GAA). Pompe disease has been classified as infantile onset or late onset; a single disease with a variable age at onset and rate of progression. The most severe form is typically diagnosed in infants between 3 and 5 months of age during the assessment of a respiratory infection, cardiomegaly, or hypotonia. In natural history studies in infants, the gap between diagnosis and ventilator use or death was 1 to 2 months; nearly all infants died by the age of 18 months. en
dc.language.iso en en
dc.subject pompe disease en
dc.subject clinical case en
dc.title Clinical presentation of a patient with a severe form of pompe disease en
dc.type Article en


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