Clinical presentation of a patient with a severe form of pompe disease

Olkhovych, N. V.; Pichkur, N. A.; Ivanova, T. P.; Gorovenko, N. G.; Sinchuk, N. I.

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