Načítá se...
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...
Uloženo v:
| Hlavní autoři: | , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2010
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|