Results 81 to 90 of about 532,411 (388)
Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy [PDF]
, 2017 Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle ...
Banz, Yara +3 more
core
Association between urinary sodium, creatinine, albumin, and long term survival in chronic kidney disease [PDF]
, 2014 Dietary sodium intake is associated with hypertension and cardiovascular risk in the general population. In patients with chronic kidney disease, sodium intake has been associated with progressive renal disease, but not independently of proteinuria.
Fox, Jonathan G. +6 more
core +1 more source
Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids
Molecular Oncology, EarlyView.This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici +8 more
wiley +1 more source
A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage. [PDF]
Children (Basel)Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Akitomo T +9 more
europepmc +2 more sources
Optimal management of sarcopenia [PDF]
, 2010 Sarcopenia is the progressive generalized loss of skeletal muscle mass, strength, and function which occurs as a consequence of aging. With a growing older population, there has been great interest in developing approaches to counteract the effects of ...
Burton, Louise A., Sumukadas, Deepa
core +6 more sources
Molecular Oncology, EarlyView.Urinary LGALS3BP is elevated in bladder cancer patients compared to healthy controls as detected by the 1959 antibody–based ELISA. The antibody shows enhanced reactivity to the high‐mannose glycosylated variant secreted by cancer cells treated with kifunensine (KIF).
Asia Pece +18 more
wiley +1 more source
Science Advances, 2019 GALC-loaded nanoparticles can reinstate enzymatic activity in the brain of the mouse model of Krabbe disease. Lysosomal storage disorders (LSDs) result from an enzyme deficiency within lysosomes. The systemic administration of the missing enzyme, however,
Ambra Del Grosso +7 more
semanticscholar +1 more source
Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study. [PDF]
, 2017 Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test.
Berger, Kenneth I +11 more
core +1 more source
Survivin and Aurora Kinase A control cell fate decisions during mitosis
Molecular Oncology, EarlyView.Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir +2 more
wiley +1 more source
Enzyme replacement therapy for pancreatic insufficiency: present and future
Clinical and Experimental Gastroenterology, 2011 Aaron Fieker1, Jessica Philpott1, Martine Armand21Division of Digestive Diseases, University of Oklahoma, OKC, OK, USA; 2INSERM, U476 "Nutrition Humaine et Lipides", Marseille, F-13385 France; Univ Méditerranée Aix-
Fieker A, Philpott J, Arm, M
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