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

Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet
disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad …

Background and objectives: isolated platelet dense granule (PDG) deficiency is a
heterogeneous disorder frequently found among patients with mild to moderate bleeding …

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

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

Discussion The patient in this study was diagnosed with HPS based on typical clinical and
laboratory findings such as oculocutaneous albinism, decreased visual acuity, nystagmus …

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 …

Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting
lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculo …

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