نتایج جستجو برای: pudlak syndrome
تعداد نتایج: 621943 فیلتر نتایج به سال:
Epithelial Stress and Apoptosis Underlie Hermansky-Pudlak Syndrome–associated Interstitial Pneumonia
The AP (adaptor protein) complexes are heterotetrameric protein complexes that mediate intracellular membrane trafficking along endocytic and secretory transport pathways. There are five different AP complexes: AP-1, AP-2 and AP-3 are clathrin-associated complexes; whereas AP-4 and AP-5 are not. These five AP complexes localize to different intracellular compartments and mediate membrane traffi...
OBJECTIVE We explored the factor structure of the Massachusetts General Hospital Hairpulling Scale (MGH-HPS), a self-report measure for trichotillomania (TTM). METHODS Self-reported hairpullers who responded to an Internet-based survey (N=990) completed the MGH-HPS, demographic items, and other survey instruments. Principal axis exploratory factor analysis with Promax rotation of scores was c...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction. A subset of patients also show ceroid deposition, which can result in pulmonary fibrosis or granulomatous colitis. Whether this colitis may be considered Crohn's disease is under debate. We report a case of a patient with HPS associated with inflammatory bowe...
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