ACTA GASTRO-ENTEROLOGICA BELGICA, cilt.69, sa.2, ss.213-216, 2006 (SCI-Expanded, Scopus)
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in tissues.