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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
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|
pubmed:dateCreated |
2007-10-10
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|
pubmed:abstractText |
Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme alpha-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD has previously been documented, but until now has been studied only in a few series of patients without any longitudinal follow-up. The aim of this study was to compare spirometric changes in AFD patients with a matched control population and to follow the subsequent progression of the disease.
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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 |
|
|
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1573-2665
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
30
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
790-9
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pubmed:meshHeading |
pubmed-meshheading:17619837-Adult,
pubmed-meshheading:17619837-Age Factors,
pubmed-meshheading:17619837-Airway Obstruction,
pubmed-meshheading:17619837-Case-Control Studies,
pubmed-meshheading:17619837-Czech Republic,
pubmed-meshheading:17619837-Disease Progression,
pubmed-meshheading:17619837-Fabry Disease,
pubmed-meshheading:17619837-Female,
pubmed-meshheading:17619837-Follow-Up Studies,
pubmed-meshheading:17619837-Forced Expiratory Volume,
pubmed-meshheading:17619837-Genetic Predisposition to Disease,
pubmed-meshheading:17619837-Genotype,
pubmed-meshheading:17619837-Humans,
pubmed-meshheading:17619837-Male,
pubmed-meshheading:17619837-Middle Aged,
pubmed-meshheading:17619837-Mutation,
pubmed-meshheading:17619837-Phenotype,
pubmed-meshheading:17619837-Prognosis,
pubmed-meshheading:17619837-Respiration,
pubmed-meshheading:17619837-Severity of Illness Index,
pubmed-meshheading:17619837-Sex Factors,
pubmed-meshheading:17619837-Spirometry,
pubmed-meshheading:17619837-Time Factors,
pubmed-meshheading:17619837-Vital Capacity,
pubmed-meshheading:17619837-alpha-Galactosidase
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pubmed:year |
2007
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|
pubmed:articleTitle |
Natural history of the respiratory involvement in Anderson-Fabry disease.
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pubmed:affiliation |
Second Department of Internal Medicine, Charles University in Prague, First Faculty of Medicine, U Nemocnice 2, 128 08, Prague 2, Czech Republic.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|
