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- W1971570520 abstract "Abstract Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessively inherited disorder consisting of the triad of oculocutaneous tyrosinase‐positive albinism, prolonged bleeding time secondary to platelet storage pool defect and ceroid depositions within the reticuloendothelial system. Some patients also reportedly have gastrointestinal (GI) complications related to chronic granulomatous colitis, enterocolitis and extensive granulomatous perianal disease, the later previously unreported in the literature. These observations suggest that the GI complications of HPS are due to the development of classical Crohn's disease. The implications for disease pathogenesis and surgical management are discussed." @default.
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- W1971570520 date "2006-08-08" @default.
- W1971570520 modified "2023-10-10" @default.
- W1971570520 title "Crohn's-like colitis, enterocolitis and perianal disease in Hermansky–Pudlak syndrome" @default.
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- W1971570520 doi "https://doi.org/10.1111/j.1463-1318.2006.01046.x" @default.
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