• A case of Hermansky-Pudlak with dyspnea
• Albinism
• AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells
• Case series on Silvery Hair Syndromes: Single Center Experience
• Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
• Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome
• Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells
• Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3
• Hermansky-Pudlak Syndrome
• Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
• Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study
• Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils
• Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature
• 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: Gene therapy for pulmonary fibrosis
• Hermansky-Pudlak Syndrome: Spectrum in Oman
• Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice
• Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency
• In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids
• Interferon-α production by plasmacytoid dendritic cells is dispensable for an effective anti-cytomegalovirus response in adaptor protein-3-deficient mice
• Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia
• Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience
• Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2
• Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
• Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders
• Partial albinism and immunodeficiency in patients with Hermansky-Pudlak Type II: Introducing 2 novel mutations
• Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
• Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in <em>HPS3</em> and <em>HPS4</em> Genes
• The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene