Results 1 to 10 of about 1,223,862 (192)

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +5 more sources

Hermansky-Pudlak Syndrome: A Case Report [PDF]

Case Reports in Hematology, 2014
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention.
Ilhami Berber, Mehmet Ali Erkurt, Irfan Kuku, Emin Kaya, Mustafa Koroglu, Ilknur Nizam, Mehmet Gul, Recep Bentli   +7 more
doaj   +7 more sources

Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis [PDF]

Respiratory Medicine Case Reports
Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia
Matthew Donnan, Samantha Ellis, Ian Glaspole   +2 more
doaj   +3 more sources

Genetic variants associated with Hermansky-Pudlak syndrome

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico   +5 more
doaj   +3 more sources

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 R. Young
exaly   +3 more sources

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets, 2021
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS.
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler   +8 more
doaj   +2 more sources

Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1 [PDF]

Orphanet Journal of Rare Diseases
Hermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality in these patients.
Lourdes Marinna Caro-Rivera, Sonya Malavez-Cajigas, Mercedes Lacourt-Ventura, Andrea P. Rivera-Torres, Dorca E. Marcano-Jiménez, Pablo López-Colon, José Muñiz-Hernández, Enid Rivera-Jiménez, Mónica Egozcue-Dionisi, Rosa Román-Carlo, Wilfredo De Jesús-Rojas, Marcos J. Ramos-Benítez   +11 more
doaj   +2 more sources

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 [PDF]

Orphanet Journal of Rare Diseases, 2022
Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico.
Gabriel Santos Malave, Natalio J. Izquierdo, Nestor P. Sanchez   +2 more
doaj   +2 more sources

Hermansky-Pudlak Syndrome in the United States. [PDF]

Chest
Abstract Rationale: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive condition caused by mutations that disrupt the trafficking of essential proteins within cells. It is characterized by oculocutaneous albinism, bleeding diathesis, and involvement of other organs.
Engel A, Summer R, Roman J.
europepmc   +4 more sources

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) [PDF]

BMC Genomics
Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease.
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi   +5 more
doaj   +2 more sources