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Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1989
Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine.
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Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine.
openaire +1 more source
Hermansky-Pudlak syndrome (HPS): An epidemiologic study
Ophthalmic Paediatrics and Genetics, 1990Carl J Witkop, C J Witkop
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Defective Surfactant Secretion in a Mouse Model of Hermansky-Pudlak Syndrome
American Journal of Respiratory Cell and Molecular Biology, 2005Susan Guttentag +2 more
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American Journal of Respiratory and Critical Care Medicine, 2011
Elena N Atochina-Vasserman +2 more
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Elena N Atochina-Vasserman +2 more
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The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
Blood, 2013Sebastian Bode +2 more
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HPS Gene Mutations in Hermansky-Pudlak Syndrome
American Journal of Human Genetics, 1999Richard Spritz, Jangsuk Oh
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Dysregulation of Galectin-3. Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
American Journal of Respiratory Cell and Molecular Biology, 2014Kevin O'Brien +2 more
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