نتایج جستجو برای: pudlak syndrome

تعداد نتایج: 621943  

Journal: :American Journal of Respiratory and Critical Care Medicine 2009

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...

2017
James C Hart Craig T Miller

Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus). In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. casper mutants display not only reduced pigmenta...

Journal: :Journal of Obstetric, Gynecologic & Neonatal Nursing 2020

Journal: :American Journal of Respiratory and Critical Care Medicine 2014

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