Results 31 to 40 of about 1,233,281 (160)
Human Pathology: Case Reports, 2021 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1 ...
Lanny T. DiFranza +3 more
doaj +1 more source
Hermansky Pudlak Syndrome Type 2:A Rare Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2020 Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000.
Yogesh Chhaparwal +2 more
doaj
Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
European Respiratory Review, 2021 Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS),
Tadafumi Yokoyama +1 more
doaj +1 more source
A Case Report of Hermansky-Pudlak Syndrome
Armaghane Danesh Bimonthly Journal, 2021 Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive disease caused by major defects in protein trafficking. HPS is characterized by ocular cutaneous albinism, the absence of dense platelet granules, and the resulting bleeding
KH Khashei Varnamkhasti, M Alipour
doaj
A Role of Phosphatidylserine in the Function of Recycling Endosomes
Frontiers in Cell and Developmental Biology, 2021 Cells internalize proteins and lipids in the plasma membrane (PM) and solutes in the extracellular space by endocytosis. The removal of PM by endocytosis is constantly balanced by the replenishment of proteins and lipids to PM through recycling pathway ...
Junya Hasegawa +5 more
doaj +1 more source
Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
Frontiers in Pharmacology, 2021 Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis.
Pamela Velázquez-Díaz +6 more
doaj +1 more source
, 2006 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in ...
TUNCER, Murat +5 more
core +2 more sources
Early Visual Development in Albinism
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background Visual system development is incomplete at birth, and while fixation and tracking usually emerge within the first weeks of life, some infants show delayed visual development (DVDev). This is frequently observed in infants with albinism, yet the timing of visual attentiveness and subsequent visual acuity development remains unclear ...
Catelijne Maria Neijzen +6 more
wiley +1 more source
, 2018 Representative computed tomography scan images of the chest from one patient with Hermansky-Pudlak syndrome pulmonary fibrosis showing diffuse bilateral interstitial infiltrates at the time of referral for lung transplantation (A) and 6 years after ...
Ye Cui (2273386) +14 more
core +1 more source
Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature [PDF]
, 2019 Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements.
Coskun Ozer Demirtas +4 more
core +1 more source