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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… 
National Institutes of Health

Related topics

Related topics

11 relations

Broader (1)

Albinism

Narrower (2)

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cellsHERMANSKY-PUDLAK SYNDROME 2
Blood Platelet DisordersIn BloodMicrobiologicalPlatelet Storage Pool Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Insights into plant biomass conversion from the genome of the anaerobic thermophilic bacterium Caldicellulosiruptor bescii DSM 6725
Caldicellulosiruptor bescii DSM 6725 utilizes various polysaccharides and grows efficiently on untreated high-lignin grasses and… 
Review
2010
Review
2010
Integrating Human Patient Simulation into Associate Degree Nursing Curricula: Faculty Experiences, Barriers, and Facilitators
Review
2007
Review
2007
INSTRUCTIONAL DESIGN AND ASSESSMENT Using a Human Patient Simulation Mannequin to Teach Interdisciplinary Team Skills to Pharmacy Students
Objectives.To determine the effectiveness and student acceptance of using a human patient simulation (HPS) training module… 
Highly Cited
2004
Highly Cited
2004
Small-angle X-ray scattering and electron paramagnetic resonance study of the interaction of bovine serum albumin with ionic surfactants.
Highly Cited
2000
Highly Cited
2000
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
Highly Cited
2000
Highly Cited
2000
Molecular Characterization of the Protein Encoded by the Hermansky-Pudlak Syndrome Type 1 Gene*
Hermansky-Pudlak syndrome (HPS) comprises a group of genetic disorders characterized by defective lysosome-related organelles… 
Highly Cited
1997
Highly Cited
1997
Tertiary and quaternary structures of 0.19 alpha-amylase inhibitor from wheat kernel determined by X-ray analysis at 2.06 A resolution.
The crystal structure of 0.19 alpha-amylase inhibitor (0.19 AI) from wheat kernel was determined by the multiple-isomorphous… 
Highly Cited
1993
Highly Cited
1993
Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency
Studies on platelet dense granule structure were carried out in 20 patients with various types of congenital storage pool… 
Highly Cited
1988
Highly Cited
1988
Mitogenic effects of growth hormone in cultured human fibroblasts. Evidence for action via local insulin-like growth factor I production.
We examined human growth hormone's (hGH) effect on mitogenesis in cultured human fibroblasts, and the role of local insulin-like… 
Highly Cited
1974
Highly Cited
1974
The electrophysiology of propranolol in man.
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