Literature DB >> 27582793

Hermansky-Pudlak syndrome in the peripartum period.

Iris L Tong1, Ghada Bourjeily1.   

Abstract

Hermansky-Pudlak syndrome (HPS) is a disease characterized by the triad of oculocutaneous albinism, bleeding diathesis and organ failure secondary to lysosomal accumulation of ceroid lipofuscin. We report the case of a pregnant woman with HPS who had a successful vaginal delivery with the administration of desmopressin.

Entities:  

Keywords:  Hermansky-Pudlak syndrome; platelet disorders; pregnancy

Year:  2008        PMID： 27582793      PMCID： PMC4989710          DOI： 10.1258/om.2008.080003

Source DB:  PubMed          Journal:  Obstet Med        ISSN： 1753-495X


  11 in total

1.  DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.

Authors:  J R Wax; S Rosengren; E Spector; A J Gainey; C J Ingardia
Journal:  Am J Perinatol       Date:  2001-05       Impact factor: 1.862

2.  Hermansky-Pudlak syndrome in a pregnant patient.

Authors:  R K Poddar; S Coley; S Pavord
Journal:  Br J Anaesth       Date:  2004-08-20       Impact factor: 9.166

3.  Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

Authors:  M Brantly; N A Avila; V Shotelersuk; C Lucero; M Huizing; W A Gahl
Journal:  Chest       Date:  2000-01       Impact factor: 9.410

4.  Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

Authors:  J Oh; T Bailin; K Fukai; G H Feng; L Ho; J I Mao; E Frenk; N Tamura; R A Spritz
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

5.  A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).

Authors:  Neil V Morgan; Shanaz Pasha; Colin A Johnson; John R Ainsworth; Robin A J Eady; Ban Dawood; Carole McKeown; Richard C Trembath; Jonathan Wilde; Steve P Watson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2005-11-28       Impact factor: 11.025

6.  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

7.  Hermansky-Pudlak syndrome in pregnancy: two case studies.

Authors:  R E Reiss; J A Copel; N S Roberts; J C Hobbins
Journal:  Am J Obstet Gynecol       Date:  1985-11-01       Impact factor: 8.661

8.  Variable response of Hermansky-Pudlak syndrome to prophylactic administration of 1-desamino 8D-arginine in subsequent pregnancies.

Authors:  János Zatik; Róbert Póka; Antal Borsos; György Pfliegler
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2002-09-10       Impact factor: 2.435

Review 9.  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

10.  Platelet von Willebrand factor in Hermansky-Pudlak syndrome.

Authors:  L P McKeown; K E Hansmann; O Wilson; W Gahl; H R Gralnick; K E Rosenfeld; S J Rosenfeld; M K Horne; M E Rick
Journal:  Am J Hematol       Date:  1998-10       Impact factor: 10.047
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