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A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. [PDF]
Medicine (Baltimore), 2019 Wu W +7 more
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Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome
Indian Journal of Respiratory CareSandesh S, Sanjay S, Harsha H
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II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS, 2023
Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
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Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
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Annals of Diagnostic Pathology, 1997
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
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Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
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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
openaire +1 more source