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: | R Vani, S Keertihvasan, K Anbananthan |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2014-01-01
|
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 |
Similar Items
-
Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
by: Ross Summer, et al.
Published: (2019-07-01) -
A family history of Hermansky–Pudlak syndrome complicated with pulmonary fibrosis: a case series and review
by: Katiuska Liendo Martinez, et al.
Published: (2021-04-01) -
Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
by: Pamela Velázquez-Díaz, et al.
Published: (2021-03-01) -
Hermansky-Pudlak syndrome; a Case Report
by: Abbas Bagheri, et al.
Published: (2010-01-01) -
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report
by: Martina Doubková, et al.
Published: (2019-10-01)