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Journal Article
Clinics in Chest Medicine, ISSN 0272-5231, 09/2016, Volume 37, Issue 3, pp. 505 - 511
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis,... 
Biogenesis of lysosome-related organelle complex | Pulmonary fibrosis | Adaptor protein 3 | Albinism | Hermansky-Pudlak syndrome | Interstitial lung disease | MUTATION SCREEN REVEALS | FORM | SUSCEPTIBILITY | COLITIS | RESPIRATORY SYSTEM | INFLAMMATION | MOUSE MODEL | SYNDROME TYPE-2 | LUNG-DISEASE | PULMONARY-FIBROSIS | IMMUNODEFICIENCY | Epistaxis - etiology | Hemorrhagic Disorders - physiopathology | Pulmonary Veins - abnormalities | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Hypertension, Pulmonary - physiopathology | Telangiectasis - physiopathology | Epistaxis - physiopathology | Arteriovenous Malformations - physiopathology | Intracranial Arteriovenous Malformations - physiopathology | Albinism, Oculocutaneous - physiopathology | Hemorrhagic Disorders - complications | Liver Diseases - etiology | Intracranial Arteriovenous Malformations - etiology | Crohn Disease - etiology | Pulmonary Fibrosis - etiology | Albinism - physiopathology | Blood Coagulation Disorders - etiology | Arteriovenous Malformations - etiology | Pulmonary Artery - abnormalities | Albinism - complications | Albinism, Oculocutaneous - etiology | Telangiectasis - etiology | Hermanski-Pudlak Syndrome - complications | Pulmonary Fibrosis - physiopathology | Hermanski-Pudlak Syndrome - physiopathology | Crohn Disease - physiopathology | Liver Diseases - physiopathology | Hypertension, Pulmonary - etiology | Blood Coagulation Disorders - physiopathology
Journal Article
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2015, Volume 125, Issue 8, pp. 3178 - 3192
Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by mutations that alter the function of lysosome-related organelles. Pulmonary... 
MEDICINE, RESEARCH & EXPERIMENTAL | TISSUE RESPONSES | EPITHELIAL-CELLS | GRANULOMATOUS COLITIS | INFLAMMATION | MOUSE MODEL | IL-13R-ALPHA-2 | LYSOSOME-RELATED ORGANELLES | IL-13 | IDIOPATHIC PULMONARY-FIBROSIS | BREAST REGRESSION PROTEIN-39 | Humans | Male | Pulmonary Fibrosis - blood | Pulmonary Fibrosis - genetics | Receptors, Prostaglandin - metabolism | Adipokines - blood | Chitinase-3-Like Protein 1 | Hermanski-Pudlak Syndrome - blood | Respiratory Mucosa - pathology | Receptors, Prostaglandin - genetics | Adipokines - genetics | Adult | Female | Pulmonary Fibrosis - etiology | Disease Models, Animal | Glycoproteins - genetics | Interleukin-13 Receptor alpha2 Subunit - metabolism | Glycoproteins - blood | Pulmonary Fibrosis - pathology | Biomarkers - blood | Mice, Knockout | Hermanski-Pudlak Syndrome - genetics | Lectins - blood | Animals | Hermanski-Pudlak Syndrome - complications | Interleukin-13 Receptor alpha2 Subunit - genetics | Hermanski-Pudlak Syndrome - pathology | Lectins - genetics | Mice | Respiratory Mucosa - metabolism | Receptors, Immunologic - genetics | Receptors, Immunologic - metabolism | Apoptosis | Enzymes | Pulmonary fibrosis | Gene mutations | Physiological aspects | Development and progression | Hydrolases | Genetic aspects | Research | Health aspects | Proteins | Studies | Chitinase | Plasma | Laboratories | Rodents | Lung diseases | Mutation | Defects
Journal Article
Blood, ISSN 0006-4971, 04/2013, Volume 121, Issue 15, pp. 2943 - 2951
Journal Article
BMC Gastroenterology, ISSN 1471-230X, 01/2019, Volume 19, Issue 1, pp. 9 - 4
Journal Article
JAMA Dermatology, ISSN 2168-6068, 10/2014, Volume 150, Issue 10, pp. 1083 - 1087
Journal Article
American Journal of Respiratory Cell and Molecular Biology, ISSN 1044-1549, 2014, Volume 50, Issue 3, pp. 605 - 613
Journal Article
Journal of AAPOS, ISSN 1091-8531, 2013, Volume 17, Issue 5, pp. 542 - 544
Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous... 
Ophthalmology | OPHTHALMOLOGY | PEDIATRICS | PREVALENCE | MELANOCYTOSIS | Albinism, Oculocutaneous - complications | Iris Diseases - etiology | Hermanski-Pudlak Syndrome - complications | Humans | Female | Infant | Pigmentation Disorders - etiology | Gene mutations | Blindness
Journal Article
Skinmed, ISSN 1540-9740, 2014, Volume 12, Issue 5, pp. 313 - 315
A 34-year-old woman presented to our outpatient clinic with photosensitivity, photophobia, and facial pruritus (Figure 1). She had brown eyes and fair skin,... 
Keratosis, Actinic - complications | Diagnosis, Differential | Hermanski-Pudlak Syndrome - complications | Humans | Hermanski-Pudlak Syndrome - physiopathology | Adult | Female | Hermanski-Pudlak Syndrome - diagnosis
Journal Article
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