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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...

詳細記述

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書誌詳細
主要な著者: Serrant, Maribel Torres, Ramirez, Sonia I, Cadilla, Carmen L, Ramos-Valencia, Gilberto
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
オンライン・アクセス: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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