Hermanski-Pudlak Syndrome

Known as: Hermanski Pudlak Syndrome, Hermanski-Pudlak Syndrome [Disease/Finding], HPS (Hermansky Pudlak syndrome) 
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal… (More)
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Platelets play a central role in thrombosis, hemostasis, and inflammation. We show that activated platelets release inorganic… (More)
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Highly Cited
2006
Highly Cited
2006
Variations in the gene encoding catechol-O-methyltransferase (COMT) are linked to individual differences in pain sensitivity. A… (More)
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Highly Cited
2005
Highly Cited
2005
Pain sensitivity varies substantially among humans. A significant part of the human population develops chronic pain conditions… (More)
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Highly Cited
2005
Highly Cited
2005
Few data exist concerning survival after the diagnosis of hepatopulmonary syndrome (HPS). Although orthotopic liver… (More)
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Highly Cited
2003
Highly Cited
2003
Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism… (More)
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Highly Cited
2002
Highly Cited
2002
PURPOSE alpha-galactosylceramide (KRN7000) is a glycosphingolipid that has been shown to inhibit tumor growth and to prolong… (More)
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Highly Cited
2001
Highly Cited
2001
Rab27a activity is affected in several mouse models of human disease including Griscelli (ashen mice) and Hermansky-Pudlak… (More)
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Review
2000
Review
2000
Lysosomes are membrane-bound cytoplasmic organelles involved in intracellular protein degradation. They contain an assortment of… (More)
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Highly Cited
1999
Highly Cited
1999
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defective lysosome-related organelles. Here, we report the… (More)
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Highly Cited
1975
Highly Cited
1975
Two heme-peptides (HP) of about 20-A diameter (heme-undecapeptide [H11P], mol wt approximately 1900 and heme-octapeptide [H8P… (More)
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