File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Variable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong

TitleVariable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kong
Authors
KeywordsChinese
Enzyme replacement
Pompe disease
Issue Date2009
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
Hong Kong Journal Of Paediatrics, 2009, v. 14 n. 4, p. 243-251 How to Cite?
Abstract
Pompe 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.
DescriptionFulltext link: www.hkjpaed.org/pdf/2009;14;243-251.pdf
Persistent Identifierhttp://hdl.handle.net/10722/80084
ISSN
2013 Impact Factor: 0.106
2013 SCImago Journal Rankings: 0.126
References

 

Author Affiliations
  1. The University of Hong Kong
DC FieldValueLanguage
dc.contributor.authorPoon, GWKen_HK
dc.contributor.authorKwok, AMKen_HK
dc.contributor.authorCheung, PTen_HK
dc.contributor.authorYung, TCen_HK
dc.contributor.authorNg, YKen_HK
dc.contributor.authorTsoi, NSen_HK
dc.contributor.authorWong, KYen_HK
dc.contributor.authorLow, LCKen_HK
dc.date.accessioned2010-09-06T08:02:13Z-
dc.date.available2010-09-06T08:02:13Z-
dc.date.issued2009en_HK
dc.identifier.citationHong Kong Journal Of Paediatrics, 2009, v. 14 n. 4, p. 243-251en_HK
dc.identifier.issn1013-9923en_HK
dc.identifier.urihttp://hdl.handle.net/10722/80084-
dc.descriptionFulltext link: www.hkjpaed.org/pdf/2009;14;243-251.pdf-
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.en_HK
dc.languageengen_HK
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_HK
dc.relation.ispartofHong Kong Journal of Paediatricsen_HK
dc.subjectChineseen_HK
dc.subjectEnzyme replacementen_HK
dc.subjectPompe diseaseen_HK
dc.titleVariable response to enzyme replacement therapy in two Chinese children with infantile-onset Pompe disease in Hong Kongen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1013-9923&volume=14&spage=243&epage=251&date=2009&atitle=Variable+Response+to+Enzyme+Replacement+Therapy+in+Two+Chinese+Children+with+Infantile-onset+Pompe+Disease+in+Hong+Kong+en_HK
dc.identifier.emailCheung, PT: ptcheung@hku.hken_HK
dc.identifier.emailLow, LCK: lcklow@hkucc.hku.hken_HK
dc.identifier.authorityCheung, PT=rp00351en_HK
dc.identifier.authorityLow, LCK=rp00337en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.scopuseid_2-s2.0-71549150293en_HK
dc.identifier.hkuros167954en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-71549150293&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume14en_HK
dc.identifier.issue4en_HK
dc.identifier.spage243en_HK
dc.identifier.epage251en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridPoon, GWK=36874601700en_HK
dc.identifier.scopusauthoridKwok, AMK=35760406500en_HK
dc.identifier.scopusauthoridCheung, PT=7202595465en_HK
dc.identifier.scopusauthoridYung, TC=9132842300en_HK
dc.identifier.scopusauthoridNg, YK=8708381400en_HK
dc.identifier.scopusauthoridTsoi, NS=6603693887en_HK
dc.identifier.scopusauthoridWong, KY=7404760030en_HK
dc.identifier.scopusauthoridLow, LCK=7007049461en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats