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Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction. The most grave complication of disease is interstitial...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625230/ https://www.ncbi.nlm.nih.gov/pubmed/31290422 http://dx.doi.org/10.4103/lungindia.lungindia_258_18 |