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Article: Variable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong
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TitleVariable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong
 
AuthorsPoon, GWK1
Kwok, AMK1
Cheung, PT1
Yung, TC1
Ng, YK1
Tsoi, NS1
Wong, KY1
Low, LCK1
 
KeywordsChinese
Enzyme replacement
Pompe disease
 
Issue Date2009
 
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
 
CitationHong Kong Journal Of Paediatrics, 2009, v. 14 n. 4, p. 243-251 [How to Cite?]
 
AbstractPompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantileonset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong.
 
ISSN1013-9923
2012 Impact Factor: 0.068
2012 SCImago Journal Rankings: 0.107
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorPoon, GWK
 
dc.contributor.authorKwok, AMK
 
dc.contributor.authorCheung, PT
 
dc.contributor.authorYung, TC
 
dc.contributor.authorNg, YK
 
dc.contributor.authorTsoi, NS
 
dc.contributor.authorWong, KY
 
dc.contributor.authorLow, LCK
 
dc.date.accessioned2010-09-06T08:02:13Z
 
dc.date.available2010-09-06T08:02:13Z
 
dc.date.issued2009
 
dc.description.abstractPompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantileonset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement therapy has changed the natural history of the disease. We report our experience of the use of recombinant human acid alpha-glucosidase in the treatment of two Chinese patients with infantile-onset Pompe disease in Hong Kong.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationHong Kong Journal Of Paediatrics, 2009, v. 14 n. 4, p. 243-251 [How to Cite?]
 
dc.identifier.epage251
 
dc.identifier.hkuros167954
 
dc.identifier.issn1013-9923
2012 Impact Factor: 0.068
2012 SCImago Journal Rankings: 0.107
 
dc.identifier.issue4
 
dc.identifier.openurl
 
dc.identifier.scopuseid_2-s2.0-71549150293
 
dc.identifier.spage243
 
dc.identifier.urihttp://hdl.handle.net/10722/80084
 
dc.identifier.volume14
 
dc.languageeng
 
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
 
dc.publisher.placeHong Kong
 
dc.relation.ispartofHong Kong Journal of Paediatrics
 
dc.relation.referencesReferences in Scopus
 
dc.subjectChinese
 
dc.subjectEnzyme replacement
 
dc.subjectPompe disease
 
dc.titleVariable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong
 
dc.typeArticle
 
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<contributor.author>Kwok, AMK</contributor.author>
<contributor.author>Cheung, PT</contributor.author>
<contributor.author>Yung, TC</contributor.author>
<contributor.author>Ng, YK</contributor.author>
<contributor.author>Tsoi, NS</contributor.author>
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<contributor.author>Low, LCK</contributor.author>
<date.accessioned>2010-09-06T08:02:13Z</date.accessioned>
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Author Affiliations
  1. The University of Hong Kong