Results 91 to 100 of about 291 (129)
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Hermansky-Pudlak Syndrome in Pregnancy
American Journal of Perinatology, 2009Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in
Jeffrey, Spencer, Sally, Rosengren
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Scandinavian Journal of Haematology, 1977
A Dutch kindred with the Hermansky‐Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5‐hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these patients. Platelet aggregation with ADP, collagen and adrenaline was within the normal range.
S. M. Gerritsen +5 more
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A Dutch kindred with the Hermansky‐Pudlak syndrome (HPS) is described. We show for the first time evidence of a lowered platelet 5‐hydroxytryptamine content in obligate heterozygotes. Platelet ATP and ADP levels and ATP/ADP ratio were normal in these patients. Platelet aggregation with ADP, collagen and adrenaline was within the normal range.
S. M. Gerritsen +5 more
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Biochemical Studies in Hermansky‐Pudlak Syndrome
Scandinavian Journal of Haematology, 1979In order to find the basic defect in the Hermansky‐Pudlak Syndrome (HPS), biochemical studies of platelets and leucocytes were undertaken.Glutathione levels of platelets were normal and regeneration of GSH similar to controls occurred after incubation with diamide (a specific agent for GSH oxidation).
S M, Gerritsen +5 more
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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.
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
exaly
The Hermansky-Pudlak syndrome.
Bulletin de la Societe belge d'ophtalmologie, 1998The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos.
A, Brandt +4 more
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Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma
Ca-A Cancer Journal for Clinicians, 2020Aaron J Grossberg +2 more
exaly
Oral complications of cancer and cancer therapy
Ca-A Cancer Journal for Clinicians, 2012Joel B Epstein +2 more
exaly