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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 |
2010-8-6
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pubmed:abstractText |
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages. Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.
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pubmed:grant |
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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:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1536-3678
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
448-53
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pubmed:dateRevised |
2011-10-6
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pubmed:meshHeading |
pubmed-meshheading:20562649-Gene Frequency,
pubmed-meshheading:20562649-Genetic Testing,
pubmed-meshheading:20562649-Hermanski-Pudlak Syndrome,
pubmed-meshheading:20562649-Heterozygote,
pubmed-meshheading:20562649-Humans,
pubmed-meshheading:20562649-Infant, Newborn,
pubmed-meshheading:20562649-Neonatal Screening,
pubmed-meshheading:20562649-Polymerase Chain Reaction,
pubmed-meshheading:20562649-Prevalence,
pubmed-meshheading:20562649-Puerto Rico
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pubmed:year |
2010
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|
pubmed:articleTitle |
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.
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pubmed:affiliation |
Department of Pediatrics, Hematology/Oncology Section, University of Puerto Rico School of Medicine, San Juan, Puerto Rico.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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