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HERMANSKY-PUDLAK SYNDROME 5

Known as: HPS5 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
Background: Genetic disorders are enormously diverse both in terms of genotype and phenotype. Each case requires a careful and… 
2017
2017
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive… 
2014
2014
2013
2013
2012
2012
Normally, many granules containing uric acid accumulate in the larval integument of the silkworm, Bombyx mori. These uric acid… 
2007
2007
Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and… 
Highly Cited
2004
Highly Cited
2004
Hermansky–Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and… 
2004
2004
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet… 
Highly Cited
2004
Highly Cited
2004
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous inherited disease affecting vesicle trafficking among lysosome…