Results 141 to 150 of about 1,223,862 (192)

Acute Angle Closure Glaucoma Attack in a Patient With Hermansky-Pudlak Syndrome: A Case Report. [PDF]

Cureus
Vázquez-Folch SJ, Jiménez-Berríos GA, Izquierdo N.   +2 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder. [PDF]

Cureus
Alasmari BG, Wafa S, Tahir AM, Aljubran A, Alfaifi A, Alsaab K, Elzubair L.   +6 more
europepmc   +1 more source

A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions. [PDF]

Case Rep Med
Alcidi R, Campanella T, Curcio R, Chiatti L, Arrivi A, Ferranti L, Carreras G, Barabani M, Pucci G.   +8 more
europepmc   +1 more source

Type 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome. [PDF]

JCI Insight
Sorkhdini P, Klubock-Shukla K, Sheth S, Yang D, Yang AX, Norbrun C, Introne WJ, Gochuico BR, Zhou Y.   +8 more
europepmc   +1 more source

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model. [PDF]

FEBS Lett
Maynard DM, Gochuico BR, Pri Chen H, Bleck CKE, Zerfas PM, Introne WJ, Gahl WA, Malicdan MCV.   +7 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone. [PDF]

Intern Med
Ono Y, Tode N, Yamamoto Y, Iwasaki C, Konno S, Sugiyama H, Endo T, Takeda S, Matsumoto S, Numakura T, Ichikawa T, Tamada T, Sugiura H.   +12 more
europepmc   +1 more source

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

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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