Results 161 to 170 of about 4,832 (184)
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The Journal of the Association of Physicians of India, 2010
We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon.
Tiyas, Sen +5 more
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We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male. He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon.
Tiyas, Sen +5 more
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Hermansky-Pudlak Syndrome: Spectrum in Oman
Journal of Pediatric Hematology/Oncology, 2022Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients’ pulmonary fibrosis, granulomatous colitis, and immunodeficiency. To date, 11 different types of Hermansky-Pudlak syndrome were identified. HPS type
Hanan F. Nazir +4 more
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Case 124: Hermansky-Pudlak Syndrome
Radiology, 2007History A 53 year- old Rican man presented with long standing and gradicaly increasing. He also reported occasional abdominal pain easy brasing and occasional epistaxis. The patient smoking. He stared that his sister had died of pulmonary many years arlier Physical examination revealed bilateral crackles in the lungts and skin hypopigmentation Oxygen ...
Yahya M, Berkmen, Belinda M, Dsouza
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European journal of dermatology : EJD, 2001
A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of
A, Krisp +4 more
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A 55-year-old man had oculocutaneous albinism and a history of frequent bruising following minimal trauma. The simultaneous occurrence of these features was first described by Hermansky and Pudlak in 1959. The Hermansky-Pudlak syndrome follows an autosomal recessive trait and is most frequently found in Puerto Rico and in the Swiss alps. It consists of
A, Krisp +4 more
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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.
openaire +1 more source