Hermansky–Pudlak syndromeHermansky鈥揚udlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction ...
网络释义 1. 氏综合征 检索:海普二氏综合征(Hermansky-Pudlak-syndrome)检索词是:海普二氏综合征或者Hermansky-Pudlak-syndrome 截词 …www.kjebm.com|基于1 个网页 例句 释义: 全部,氏综合征 更多例句筛选 1. Clinical Manifestation, Diagnosis and Treatment of Hermansky-Pudlak Syndrome 综合征的临床表现、诊断...
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function. Biology and genetics of oculocutaneous albinism and vitiligo--common pigmentation disorders in southern Africa The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherit...
Overview: Hermansky-Pudlak syndrome (HPS) is a hereditary condition characterized by oculocutaneous albinism and bleeding diathesis. Visual indicators of oculocutaneous albinism include fair or light-colored skin, hair, and eyes. Other symptoms may...
Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder consisting of a triad of tyrosinase-positive albinism, an accumulation of ceroid in tissues and a bleeding tendency due to storage pool deficient platelets. HPS is frequently found in the Puerto Rican population and a village of ...
Hermansky-Pudlak综合征是一种罕见的遗传性疾病,主要特征包括血小板功能异常、视网膜色素变性、肺纤维化和皮肤色素沉着等。 HPS4相关Hermansky-Pudlak综合征(Hermansky-Pudlak Syndrome, HPS4-Related)基因检测机构 HPS4基因检测可以通过一些专业的遗传检测机构进行。以下是一些常见的遗传检测机构: 1. 遗传咨询中心:许多...
Hermansky-Pudlak syndrome comprises a heterogeneous group of disorders characterized by platelet dysfunction, tyrosinase-positive oculocutaneous albinism, and, occasionally, interstitial lung disease, pulmonary fibrosis, and inflammatory colitis. From: Stiehm's Immune Deficiencies, 2014 ...
Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking. The mechanism for Crohn’s disease-like inflammation, lung fibrosis, and macrophage lipid accumulation in these patients remains enigmatic. The aim of this study is to understand the cellular basis of inflamm...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease with tyrosinase-positive oculocutaneous albinism of variable severity and platelet dysfunction. HPS-2, among nine other HPS types, was first reported in 1981 by Weening et al. in a patient who had partial albinism, neutropenia, and...
Hermansky-Pudlak Syndrome is "autosomal recessive," which means that both parents have to be carriers for the condition to develop. This Article Improved My Health Changed My Life Saved My Life The condition earned its name from the two doctors who cared for the first two patients identified in...