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10.1016/j.ccm.2016.04.012

http://scihub22266oqcxt.onion/10.1016/j.ccm.2016.04.012
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C4987498!4987498 !27514596
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suck abstract from ncbi


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pmid27514596
      Clin+Chest+Med 2016 ; 37 (3 ): 505-11
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  • Hermansky-Pudlak Syndrome #MMPMID27514596
  • El-Chemaly S ; Young LR
  • Clin Chest Med 2016[Sep]; 37 (3 ): 505-11 PMID27514596 show ga
  • Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.
  • |Albinism, Oculocutaneous/etiology/physiopathology [MESH]
  • |Albinism/complications/physiopathology [MESH]
  • |Arteriovenous Malformations/etiology/*physiopathology [MESH]
  • |Blood Coagulation Disorders/etiology/*physiopathology [MESH]
  • |Crohn Disease/etiology/physiopathology [MESH]
  • |Epistaxis/etiology/physiopathology [MESH]
  • |Gastrointestinal Diseases/etiology/physiopathology [MESH]
  • |Hemorrhagic Disorders/complications/physiopathology [MESH]
  • |Hermanski-Pudlak Syndrome/complications/*physiopathology [MESH]
  • |Humans [MESH]
  • |Hypertension, Pulmonary/etiology/*physiopathology [MESH]
  • |Intracranial Arteriovenous Malformations/etiology/*physiopathology [MESH]
  • |Liver Diseases/etiology/physiopathology [MESH]
  • |Pulmonary Artery/abnormalities [MESH]
  • |Pulmonary Fibrosis/etiology/*physiopathology [MESH]
  • |Pulmonary Veins/abnormalities [MESH]


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