ロード中...
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...
保存先:
| 主要な著者: | , , , |
|---|---|
| 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 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|