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
2011 Impact Factor: 0.027
2011 SCImago Journal Rankings: 0.029
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 0.027
2011 SCImago Journal Rankings: 0.029
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
Author Affiliations
  1. The University of Hong Kong