Results 121 to 130 of about 1,233,281 (160)

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review. [PDF]

Ther Adv Respir Dis
Liu Q, Qing W, Guo S, Wang Y, Chen Y, Liu J.   +5 more
europepmc   +1 more source

Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. [PDF]

Adv Respir Med
De Jesús-Rojas W, Reyes-Peña L, Muñiz-Hernandez J, Mena-Ventura R, Camareno-Soto G, Rosario-Ortiz G, Ramos-Benitez MJ, Egozcue-Dionisi M, Rivera-Jimenez E, Román-Carlo R.   +9 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome Complicated by Crohn's Disease and Hidradenitis Suppurativa: A Case of Multisystem Immune Dysregulation. [PDF]

ACG Case Rep J
Yanofsky R, Stein SL, Rubin DT, Kellar A.   +3 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

Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome

Indian Journal of Anaesthesia, 2015
Mustafa Ozgur, Bahar Yilmaz
doaj   +1 more source

Dysregulated alveolar epithelial cell progenitor function and identity in Hermansky-Pudlak syndrome. [PDF]

JCI Insight
Wang JY, Michki SN, Sitaraman S, Banaschewski BJ, Jamal R, Gokey JJ, Lin SM, Katzen JB, Basil MC, Cantu E, Kropski JA, Zepp JA, Frank DB, Young LR.   +13 more
europepmc   +1 more source

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review. [PDF]

Ther Adv Respir Dis
Du D, Yang T, Wan H, Luo F.
europepmc   +1 more source

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3. [PDF]

Front Genet
Mai J, Zhang Z, Xu B, Liu S, Wang H, Wang H, Yang S.   +6 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia. [PDF]

Am J Case Rep
Alhomayin LA, Alharbi AR, Nadama AR, Cal JH, Paramasivam M.   +4 more
europepmc   +1 more source

Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome. [PDF]

Nat Commun
Yong X, Jia G, Yang Q, Zhou C, Zhang S, Deng H, Billadeau DD, Su Z, Jia D.   +8 more
europepmc   +1 more source