Article
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Annals of the American Thoracic Society - 1 Oct 2016
Vicary Glenn W, Vergne Yeidyly, Santiago-Cornier Alberto, Young Lisa R, Roman Jesse
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in diagnosis; however, not all patients with HPS have identified genetic mutations. In Puerto Rico, patients with HPS...
Topics
- Animals
- Biomarkers
- Disease Progression
- Hermanski-Pudlak Syndrome
- Hispanic or Latino
- Humans
- Indoles
- Lung Transplantation
- Membrane Proteins
- Mice
- Mutation
- Puerto Rico
- Pulmonary Fibrosis
- Pyridones
- Randomized Controlled Trials as Topic
- Tomography, X-Ray Computed