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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2008-11-21
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pubmed:abstractText |
Infantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid alpha-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The disease is characterized by profound hypotonia, poor growth, organomegaly, and cardiomegaly. Severe hypertrophic cardiomyopathy often is present in early infancy, and most patients die of cardiac or respiratory failure in the first year of life. This report describes the cardiac response of infants with Pompe disease to a phase 2 trial of enzyme replacement therapy (ERT).
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-10887364,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-10972374,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-11286229,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-12409258,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-12646684,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-12897283,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-14567965,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-15121988,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-15153218,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-15557009,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-16702879,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-16737883,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-16860134,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18661169-6460990
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0172-0643
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1033-42
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:18661169-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:18661169-Echocardiography,
pubmed-meshheading:18661169-Electrocardiography,
pubmed-meshheading:18661169-Female,
pubmed-meshheading:18661169-Glycogen Storage Disease Type II,
pubmed-meshheading:18661169-Humans,
pubmed-meshheading:18661169-Infant,
pubmed-meshheading:18661169-Infant, Newborn,
pubmed-meshheading:18661169-Infusions, Intravenous,
pubmed-meshheading:18661169-Male,
pubmed-meshheading:18661169-Radiography, Thoracic,
pubmed-meshheading:18661169-Recombinant Proteins,
pubmed-meshheading:18661169-Statistics, Nonparametric,
pubmed-meshheading:18661169-Treatment Outcome,
pubmed-meshheading:18661169-alpha-Glucosidases
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pubmed:year |
2008
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pubmed:articleTitle |
Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.
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pubmed:affiliation |
Department of Cardiology, Children's Hospital Boston and Pediatrics, Harvard Medical School, Boston, MA 02115, USA. jami.levine@cardio.chboston.org
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pubmed:publicationType |
Journal Article,
Clinical Trial,
Research Support, Non-U.S. Gov't,
Multicenter Study,
Research Support, N.I.H., Extramural
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