نتایج جستجو برای: pudlak syndrome

تعداد نتایج: 621943  

2014
Sang Yoon Park Xiaoli Guo

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...

Journal: :American Journal of Respiratory Cell and Molecular Biology 2014

Journal: :Journal of psychosomatic research 2007
Nancy J Keuthen Christopher A Flessner Douglas W Woods Martin E Franklin Dan J Stein Susan E Cashin

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...

Journal: :Gastroenterologie clinique et biologique 2006
Antoine de Leusse Evelyne Dupuy Marjan Huizing Claire Danel Guy Meyer Raymond Jian Philippe Marteau

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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