Individuals with Hermansky-Pudlak Syndrome (HPS) lack platelet dense granules and have
no ADP-autocrine response. Despite these platelet deficiencies, HPS patients exhibit a …

Protein disulfide isomerase (PDI), secreted from platelets and endothelial cells after injury, is
required for thrombus formation. The effect of platelet and endothelial cell granule contents …

Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis
that displays genetic locus heterogeneity. The eight known HPS proteins combine in …

Platelets from patients with the Hermansky-Pudlak (HPS) syndrome are deficient in the
storage pool of adenine nucleotides and serotonin. As a result, the storage pool deficient …

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which is
genetically heterogeneous. In humans, mutations associated with this syndrome have been …

Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleeding
diathesis, and other variable symptoms. The bleeding diathesis has been attributed to δ …

Inherited platelet disorders may be the cause of bleeding symptoms of varying severity as
platelets fail to fulfil their haemostatic role after vessel injury. Platelet disorders may be …

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by
defective biogenesis of lysosome-related organelles. Clinical manifestations include a …

Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in
the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins …

Platelets from a patient with the Hermansky‐Pudlak syndrome were studied. These platelets
had decreased amounts of serotonin and adenine nucleotides, and a decreased number of …