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赫尔曼斯基-普德拉克综合征:一例报告并文献复习

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

作者信息

Hurford Matthew T, Sebastiano Christopher

机构信息

Department of Pathology and Laboratory Medicine, Temple University Hospital Philadelphia, PA, USA.

出版信息

Int J Clin Exp Pathol. 2008 Jan 1;1(6):550-4.

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.

摘要

Hermansky-Pudlak综合征是一种罕见的常染色体隐性疾病,其特征为术后出血过多。在此,我们报告了这样一例病例,并回顾了其临床病理特征以及我们目前对这种罕见先天性疾病的认识。

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本文引用的文献

1
Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review.
Respiration. 2006;73(3):382-95. doi: 10.1159/000091609. Epub 2006 Feb 14.
2
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Pigment Cell Res. 2006 Feb;19(1):19-42. doi: 10.1111/j.1600-0749.2005.00289.x.
3
Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome.
J Heart Lung Transplant. 2005 Oct;24(10):1697-9. doi: 10.1016/j.healun.2004.11.015.
4
The cell biology of Hermansky-Pudlak syndrome: recent advances.
Traffic. 2005 Jul;6(7):525-33. doi: 10.1111/j.1600-0854.2005.00299.x.
7
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.
Mol Genet Metab. 2002 Jul;76(3):234-42. doi: 10.1016/s1096-7192(02)00044-6.
8
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x.
10
Congenital disorders of platelet function: disorders of signal transduction and secretion.
Am J Med Sci. 1998 Aug;316(2):69-76. doi: 10.1097/00000441-199808000-00002.

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