• A case of acquired transient bleeding diathesis associated with acquired platelet storage pool deficiency and defective thromboxane A2 production
• A Case Report of Rotational Thromboelastometry-Assisted Decision Analysis for Two Pregnant Patients With Platelet Storage Pool Disorder
• A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
• A microchip flow-chamber assay screens congenital primary hemostasis disorders
• A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption
• A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome
• A Novel Likely Pathogenic Variant in the <em>BLOC1S5</em> Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies
• A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules
• Acquired hemophilia A and delta storage pool deficiency in a patient with indolent non-Hodgkin lymphoma
• Activated factor X targeted stored in platelets as an effective gene therapy strategy for both hemophilia A and B
• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• Alpha-Delta Platelet Storage Pool Deficiency in a Child and Successful Treatment by Umbilical Cord Blood Transplantation: A Case Report and Literature Review
• An Investigation of ABO Blood Type and the Platelet Delta Granule Storage Pool
• AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)
• AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells
• Autoimmune disorders of platelet function: systematic review of cases of acquired Glanzmann thrombasthenia and acquired delta storage pool disease
• Biogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex
• Bleeding risks for uncharacterized platelet function disorders
• CB₁ R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome
• Circumcision bleeding rates in patients diagnosed with delta-storage pool deficiency later in life
• Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome
• Clinical phenocopies of albinism
• Delta Storage Pool Deficiency: A Pediatric Case Report and Review of the Literature
• Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3
• Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review
• Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population
• Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility
• Early ophthalmic findings in Hermansky-Pudlak syndrome type 9
• Early platelet dysfunction in patients receiving extracorporeal membrane oxygenation is associated with mortality
• Effects of Cocoa Genotypes on Coat Color, Platelets and Coagulation Parameters in French Bulldogs
• Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish
• Experience With Pre-procedural Hemostatic Medications versus Platelet Transfusion in Patients With Platelet Storage Pool Deficiency
• Flow-chamber device (T-TAS) to diagnose patients suspected of platelet function defects
• Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1
• Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
• Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients
• Genetically encoded multimode reporter of adaptor complex 3 traffic in budding yeast
• Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
• Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism
• Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study
• Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
• Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression
• Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung
• Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report
• Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6
• Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
• Hermansky-Pudlak Syndrome: Spectrum in Oman
• HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells
• HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes
• Identification of two novel mutations in a Japanese patient with Hermansky-Pudlak syndrome type 5
• Immunological platelet transfusion refractoriness: current insights from mechanisms to therapeutics
• In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis
• Inflammatory Biomarkers in Postural Orthostatic Tachycardia Syndrome with Elevated G-Protein-Coupled Receptor Autoantibodies
• Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study
• Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents
• ISTH bleeding assessment tool and platelet function analyzer in children with mild inherited platelet function disorders
• Long-term nintedanib treatment for progressive pulmonary fibrosis associated with Hermansky-Pudlak syndrome type 1 followed by lung transplantation
• Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs
• Multicolor flow cytometry in clinical samples for platelet signaling assessment
• Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
• Neurosurgical bleeding in platelet storage pool disorder: a case report
• New insights into the pathogenesis of Hermansky-Pudlak syndrome
• Novel <em>GATA1</em> Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a <em>SLC4A1</em> Variant
• Novel <em>SOX10</em> Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
• Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease
• Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet alpha-/delta-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant
• Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
• Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants
• Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
• Oral Squamous Cell Carcinoma Is Associated with a Low Thrombosis Risk Due to Storage Pool Deficiency in Platelets
• Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations
• Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery
• Platelet Aggregation Assays Do Not Reliably Diagnose Platelet Delta Granule Storage Pool Deficiency
• Platelet Delta (delta)-Storage Pool Deficiency: A Case Series and Review of the Literature
• Platelet Delta (δ)-Storage Pool Deficiency: A Case Series and Review of the Literature
• Platelet delta-Storage Pool Disease: An Update
• Platelet Storage Pool Deficiency and Elevated Inflammatory Biomarkers Are Prevalent in Postural Orthostatic Tachycardia Syndrome
• Platelet storage pool disorder in pregnancy: Utilising thromboelastography to guide a risk-based delivery plan
• Platelet storage pool disorder: multidisciplinary planning in pregnancy
• Platelet δ-Storage Pool Disease: An Update
• Platelet-Derived S1P and Its Relevance for the Communication with Immune Cells in Multiple Human Diseases
• Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?
• Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
• Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome
• Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
• Releasates of riboflavin/UV-treated platelets: Microvesicles suppress cytokine-mediated endothelial cell migration/proliferation
• Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes
• Severe hidradenitis suppurativa in a patient affected by Hermansky-Pudlak Syndrome type 9: possible shared pathogenetic aspects
• Successful treatment of pulmonary hypertension with macitentan in a patient with Hermansky-Pudlak syndrome
• Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
• The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis
• The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese population
• The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review
• Thrombin generation abnormalities in commonly encountered platelet function disorders
• Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of <em>DTNBP1</em> variants
• Whole exome sequencing for diagnosis of hereditary thrombocytopenia
• Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of <em>HPS3</em> in a Consanguineous Family with Hermansky-Pudlak Syndrome