Literature DB >> 18787629

Hermansky-pudlak syndrome: report of a case and review of the literature.

Matthew T Hurford1, Christopher Sebastiano.   

Abstract

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 disorder.

Entities:  

Keywords:  Hermansky-Pudlak syndrome; bleeding disorder; platelet

Year:  2008        PMID： 18787629      PMCID： PMC2480580     

Source DB:  PubMed          Journal:  Int J Clin Exp Pathol        ISSN： 1936-2625


  15 in total

Review 1.  Hermansky-Pudlak syndrome and related disorders of organelle formation.

Authors:  M Huizing; Y Anikster; W A Gahl
Journal:  Traffic       Date:  2000-11       Impact factor: 6.215

2.  Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

Authors:  C J Witkop; M Nuñez Babcock; G H Rao; F Gaudier; C G Summers; F Shanahan; K R Harmon; D Townsend; H O Sedano; R A King
Journal:  Bol Asoc Med P R       Date:  1990-08

3.  Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome.

Authors:  David J Lederer; Steven M Kawut; Joshua R Sonett; Efsevia Vakiani; Samuel L Seward; James G White; Jessie S Wilt; Charles C Marboe; William A Gahl; Selim M Arcasoy
Journal:  J Heart Lung Transplant       Date:  2005-10       Impact factor: 10.247

4.  Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Authors:  J Oh; L Ho; S Ala-Mello; D Amato; L Armstrong; S Bellucci; G Carakushansky; J P Ellis; C T Fong; J S Green; E Heon; E Legius; A V Levin; H K Nieuwenhuis; A Pinckers; N Tamura; M L Whiteford; H Yamasaki; R A Spritz
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

Review 5.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Authors:  Maria L Wei
Journal:  Pigment Cell Res       Date:  2006-02

6.  The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time.

Authors:  D B Van Dorp; P W Wijermans; F Meire; G Vrensen
Journal:  Ophthalmic Paediatr Genet       Date:  1990-09

Review 7.  The cell biology of Hermansky-Pudlak syndrome: recent advances.

Authors:  Santiago M Di Pietro; Esteban C Dell'Angelica
Journal:  Traffic       Date:  2005-07       Impact factor: 6.215

8.  Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.

Authors:  William A Gahl; Mark Brantly; James Troendle; Nilo A Avila; Antonio Padua; Carlos Montalvo; Hilda Cardona; Karim Anton Calis; Bernadette Gochuico
Journal:  Mol Genet Metab       Date:  2002-07       Impact factor: 4.797

Review 9.  Congenital disorders of platelet function: disorders of signal transduction and secretion.

Authors:  A K Rao
Journal:  Am J Med Sci       Date:  1998-08       Impact factor: 2.378

Review 10.  Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review.

Authors:  Diane M Pierson; Diana Ionescu; Gefei Qing; Abdullah M Yonan; Kent Parkinson; Thomas C Colby; Kevin Leslie
Journal:  Respiration       Date:  2006-02-14       Impact factor: 3.580
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  14 in total

1.  Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

Authors:  Brett W Carter
Journal:  Proc (Bayl Univ Med Cent)       Date:  2012-01

2.  Humanized mouse model of thrombosis is predictive of the clinical efficacy of antiplatelet agents.

Authors:  Jorge Magallon; Jianchun Chen; Leroy Rabbani; George Dangas; Jing Yang; James Bussel; Thomas Diacovo
Journal:  Circulation       Date:  2011-01-10       Impact factor: 29.690

3.  A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome.

Authors:  Nihal Özdemir; Emre Çelik; Zafer Başlar; Tiraje Celkan
Journal:  Turk Pediatri Ars       Date:  2014-06-01

4.  [Postoperative bleeding after resection of an intraosseous hemangioma].

Authors:  O Richter; U Müller-Vogt; J Strutz; H G Gassner
Journal:  HNO       Date:  2013-04       Impact factor: 1.284

Review 5.  Membrane lipids and proteins as modulators of urothelial endocytic vesicles pathways.

Authors:  E J Grasso; R O Calderón
Journal:  Histochem Cell Biol       Date:  2013-04-27       Impact factor: 4.304

6.  Polyphosphate suppresses complement via the terminal pathway.

Authors:  Jovian M Wat; Jonathan H Foley; Michael J Krisinger; Linnette Mae Ocariza; Victor Lei; Gregory A Wasney; Emilie Lameignere; Natalie C Strynadka; Stephanie A Smith; James H Morrissey; Edward M Conway
Journal:  Blood       Date:  2013-12-13       Impact factor: 22.113

7.  Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome.

Authors:  Nassreen Abdullah; Niall F Davis; John Quinn; Ponnusamy Mohan
Journal:  BMJ Case Rep       Date:  2018-10-12

8.  [Hereditary pigmentary disorders].

Authors:  K Giehl; M Braun-Falco
Journal:  Hautarzt       Date:  2010-07       Impact factor: 0.751

Review 9.  Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Authors:  Glenn W Vicary; Yeidyly Vergne; Alberto Santiago-Cornier; Lisa R Young; Jesse Roman
Journal:  Ann Am Thorac Soc       Date:  2016-10

10.  Polyphosphate is a novel cofactor for regulation of complement by a serpin, C1 inhibitor.

Authors:  Lakshmi C Wijeyewickrema; Emilie Lameignere; Lilian Hor; Renee C Duncan; Toshikazu Shiba; Richard J Travers; Piyushkumar R Kapopara; Victor Lei; Stephanie A Smith; Hugh Kim; James H Morrissey; Robert N Pike; Edward M Conway
Journal:  Blood       Date:  2016-06-23       Impact factor: 22.113
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