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Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model. [PDF]
FEBS LettMaynard DM +7 more
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Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone. [PDF]
Intern MedOno Y +12 more
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Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]
BMC OphthalmolKhan J +11 more
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Hermansky-Pudlak Syndrome in Pregnancy
American Journal of Perinatology, 2009Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in
Jeffrey, Spencer, Sally, Rosengren
exaly +3 more sources
Eye
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder associated with oculocutaneous albinism, platelet storage pool disorder, and bleeding diathesis, and in certain subtypes, progressive fibrosing interstitial lung disease (ILD), inflammatory bowel disease, and immunodeficiency.
Kevin Waquim, João Pedro Marques
+7 more sources
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder associated with oculocutaneous albinism, platelet storage pool disorder, and bleeding diathesis, and in certain subtypes, progressive fibrosing interstitial lung disease (ILD), inflammatory bowel disease, and immunodeficiency.
Kevin Waquim, João Pedro Marques
+7 more sources
II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS, 2023
Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
openaire +2 more sources
Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
openaire +2 more sources
Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome [PDF]
Genes, 2022 Yongguang Yuan, Chonglin Chen
exaly +2 more sources
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Genetics in Medicine, 2020 Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes.
Michael Marks +2 more
exaly +2 more sources
Annals of Diagnostic Pathology, 1997
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
openaire +2 more sources
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
openaire +2 more sources