Results 91 to 100 of about 1,230,655 (143)

Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]

BMC Ophthalmol
Khan J, Asif S, Ghani S, Khan H, Arshad MW, Khan SA, Lin S, Baple EL, Salter C, Crosby AH, Rawlins L, Shabbir MI.   +11 more
europepmc   +1 more source

Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis. [PDF]

Commun Biol
Banaschewski BJH, Michki SN, Sitaraman S, Pan R, Wang JY, Stewart D, Goldy MK, Lin SM, Cantu E, Katzen JB, Basil MC, Emtiazjoo AM, Todd JL, Gokey JJ, Kropski JA, Frank DB, Zepp JA, Young LR.   +17 more
europepmc   +1 more source

Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis. [PDF]

Int J Mol Sci
Hu X, Wei Z, Wu Y, Zhao M, Zhou L, Lin Q.   +5 more
europepmc   +1 more source

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. [PDF]

BMC Pulm Med, 2019
Doubková M, Trizuljak J, Vrzalová Z, Hrazdirová A, Blaháková I, Radová L, Pospíšilová Š, Doubek M.   +7 more
europepmc   +1 more source

Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. [PDF]

Eur J Haematol, 2019
Rivera-Concepción J, Acevedo-Canabal J, Burés A, Vargas G, Cadilla C, Izquierdo NJ.   +5 more
europepmc   +1 more source

Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. [PDF]

BMJ Case Rep, 2018
Abdullah N, Davis NF, Quinn J, Mohan P.
europepmc   +1 more source

Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. [PDF]

World J Gastroenterol, 2019
Girot P, Le Berre C, De Maissin A, Freyssinet M, Trang-Poisson C, Bourreille A.   +5 more
europepmc   +1 more source

Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils. [PDF]

Life Sci Alliance
Webbers SD, Aarts CE, Klein B, Koops D, Geissler J, Tool AT, van Bruggen R, van den Akker E, Kuijpers TW.   +8 more
europepmc   +1 more source

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Hermansky-Pudlak Syndrome

Eye
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder associated with oculocutaneous albinism, platelet storage pool disorder, and bleeding diathesis, and in certain subtypes, progressive fibrosing interstitial lung disease (ILD), inflammatory bowel disease, and immunodeficiency.
Kevin Waquim, João Pedro Marques
  +7 more sources

Hermansky-Pudlak syndrome

Gaik C, Wiesmann T: Hermansky-Pudlak syndrome, 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
openaire   +2 more sources