نتایج جستجو برای: hermansky

تعداد نتایج: 390  

Journal: :Journal of Thrombosis and Haemostasis 2010

Journal: :British Journal of Anaesthesia 2004

2014

Hermansky–Pudlak syndrome (HPS) is a rare, heterogeneously inherited, autosomal recessive group of disorders presenting with a triad of oculocutaneous albinism, a haemorrhagic defect secondary to platelet dysfunction and accumulation of ceroid-like material in the reticuloendothelial system [1, 2]. Although pulmonary fibrosis has occurred in a number of patients with this syndrome and generally...

2011
Roberto Gordillo Marcela Del Rio David B. Thomas Joseph T. Flynn Robert P. Woroniecki

We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD) stage II presented with new-onset proteinuria without edema. His blood pressure had been control...

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