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 |