A case of Pompe disease in infant

A case of Pompe disease in infant

A case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due tolife-threateni...

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Main Authors: E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Nervno-Myšečnye Bolezni
Subjects:
pompe disease
enzyme replacement therapy
Online Access:https://nmb.abvpress.ru/jour/article/view/65
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spelling doaj-f10b59a497f140a3bdfcf68612ed02282021-07-29T08:13:27ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432015-02-0104303310.17650/2222-8721-2013-0-4-30-3359A case of Pompe disease in infantE. F. Sudorgina0S. B. Choloyan1M. V. Sheenkova2L. P. Kolesnikova3Orenburg City Children’s Clinical HospitalOrenburg City Children’s Clinical HospitalOrenburg City Children’s Clinical HospitalOrenburg City Children’s Clinical HospitalA case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due tolife-threatening indication). Nowadays ERT is the only possible pathogenetic treatment of Pompe disease.https://nmb.abvpress.ru/jour/article/view/65pompe diseaseenzyme replacement therapy
collection DOAJ
language Russian
format Article
sources DOAJ
author E. F. Sudorgina
S. B. Choloyan
M. V. Sheenkova
L. P. Kolesnikova
spellingShingle E. F. Sudorgina
S. B. Choloyan
M. V. Sheenkova
L. P. Kolesnikova
A case of Pompe disease in infant
Nervno-Myšečnye Bolezni
pompe disease
enzyme replacement therapy
author_facet E. F. Sudorgina
S. B. Choloyan
M. V. Sheenkova
L. P. Kolesnikova
author_sort E. F. Sudorgina
title A case of Pompe disease in infant
title_short A case of Pompe disease in infant
title_full A case of Pompe disease in infant
title_fullStr A case of Pompe disease in infant
title_full_unstemmed A case of Pompe disease in infant
title_sort case of pompe disease in infant
publisher ABV-press
series Nervno-Myšečnye Bolezni
issn 2222-8721
2413-0443
publishDate 2015-02-01
description A case of Pompe disease in infant in Orenburg is presented in this article. Clinical picture of the infantile form of the disease is described. Enzyme replacement therapy (ERT) with alglucosidase alfa is presented (alglucosidase alfa is not registered in Russia, was administered due tolife-threatening indication). Nowadays ERT is the only possible pathogenetic treatment of Pompe disease.
topic pompe disease
enzyme replacement therapy
url https://nmb.abvpress.ru/jour/article/view/65
work_keys_str_mv AT efsudorgina acaseofpompediseaseininfant
AT sbcholoyan acaseofpompediseaseininfant
AT mvsheenkova acaseofpompediseaseininfant
AT lpkolesnikova acaseofpompediseaseininfant
AT efsudorgina caseofpompediseaseininfant
AT sbcholoyan caseofpompediseaseininfant
AT mvsheenkova caseofpompediseaseininfant
AT lpkolesnikova caseofpompediseaseininfant
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