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 …

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

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

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

The Hermansky-Pudlak syndrome (HPS) is named after the Czechoslovakian physicians
Hermansky and Pudlak, who in 1959 described two patients with oculocutaneous albinism …

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing
oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS …

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder of oculocutaneous
albinism and bleeding attributable to storage-pool-deficient platelets. Although at least 14 …