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. 2008 Jan 1;1(6):550-4.

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

Matthew T Hurford  1 , Christopher Sebastiano
Affiliations

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

Matthew T Hurford et al. Int J Clin Exp Pathol. .

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.

Keywords: Hermansky-Pudlak syndrome; bleeding disorder; platelet.

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Figures

Figure 1
Figure 1
Tracings of platelet aggregation and ATP secretion in response to various platelet stimulatory agents. A. black, 2.5 μM ADP for aggregation; blue, 1 unit thrombin for ATP secretion; red, 2.5 μM ADP for ATP secretion. B. black, 1.0 μg/mL collagen for ATP secretion; blue, 1.0 μg/mL collagen for aggregation; red, 5.0 μg/mL collagen for aggregation, and aqua, 5.0 μg/mL collagen for secretion. C. black, 2.5 μM epinephrine for ATP secretion; red, 5.0 μM epinephrine for aggregation; blue, 2.5 μM epinephrine for aggregation and aqua, 5.0 μM epinephrine for ATP secretion. D. black, 50 μg arachdonic acid for ATP secretion; blue, 50 μg arachdonic acid for aggregation.
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