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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 |