Source:http://linkedlifedata.com/resource/pubmed/id/15027668
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2004-3-18
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pubmed:abstractText |
Surfactant Protein B (SP-B) deficiency has been recently identified as an uncommon, autosomal recessive lung disorder in term infants. This inability to produce SP-B leads to progressive, lethal, hypoxemic respiratory failure in the first year of life. A frameshift mutation (121 ins 2) is the predominant but not exclusive cause. The clue to diagnosis is to have a high suspicion of SP-B deficiency in any term infant with severe respiratory distress without any apparent cause. SP-B deficiency can be diagnosed prenatally or postnatally. The only current treatment options available include lung transplantation or compassionate care. Current developments in gene therapy offer hope for future treatment.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
N
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0893-2190
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
61-7
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pubmed:dateRevised |
2005-11-16
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pubmed:meshHeading |
pubmed-meshheading:15027668-Deficiency Diseases,
pubmed-meshheading:15027668-Diagnosis, Differential,
pubmed-meshheading:15027668-Humans,
pubmed-meshheading:15027668-Incidence,
pubmed-meshheading:15027668-Infant, Newborn,
pubmed-meshheading:15027668-Lung Transplantation,
pubmed-meshheading:15027668-Neonatal Nursing,
pubmed-meshheading:15027668-Pulmonary Surfactant-Associated Protein B,
pubmed-meshheading:15027668-Respiratory Distress Syndrome, Newborn,
pubmed-meshheading:15027668-Respiratory Insufficiency,
pubmed-meshheading:15027668-Risk Factors,
pubmed-meshheading:15027668-United States
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pubmed:articleTitle |
Surfactant protein B deficiency in infants with respiratory failure.
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pubmed:affiliation |
Neonatal Intensive Care Unit, Pediatrix Medical Group, Valley Hospital Medical Center, Las Vegas, NV 89106, USA. maryann_wilder@pediatrix.com
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pubmed:publicationType |
Journal Article,
Review
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