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Newborn Screening for Hermansky-Pudlak Syndrome Type 3 in Puerto Rico
BACKGROUND: Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages(1). Patients that are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complic...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
2010
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3640623/ https://ncbi.nlm.nih.gov/pubmed/20562649 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPH.0b013e3181e5e1f1 |
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