Hermansky-Pudlak syndrome: A case report
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin). The major complications of this disorder are pulmonary fibrosis (PF) and c...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2014-01-01
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| Series: | The Journal of Association of Chest Physicians |
| Subjects: | |
| Online Access: | http://www.jacpjournal.org/article.asp?issn=2320-8775;year=2014;volume=2;issue=2;spage=78;epage=80;aulast=Vani |