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Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature
, 2008 : Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Matthew T Hurford +1 more
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New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient
, 2019 The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1 ...
Akie Hamamoto +4 more
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Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II
, 2015 Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation.
Enders, Anselm +9 more
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Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles ...
Rena A. Zinchenko +12 more
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Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies
: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome-related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells.
Olgasi C. +6 more
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, 2010 In dieser Dissertation wurden drei hereditäre Krankheiten der primären Hämostase molekulargenetisch untersucht: Bernard-Soulier-Syndrom, Hermansky-Pudlak-Syndrom und Morbus Glanzmann.
Schäfer, Sophie
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Hermansky-Pudlak Syndrome [PDF]
Clinics in Chest Medicine, 2016 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
Souheil El-Chemaly, Lisa Young
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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
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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
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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
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
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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