Search Results - "Vilk, S. Revel"
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Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
Published in Orphanet journal of rare diseases (21-12-2022)“…Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting…”
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Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease
Published in European journal of neurology (01-07-2019)“…Background and purpose Individuals with GBA (glucocerebrosidase) mutations are at increased risk of Parkinson's disease (PD). It is still debated, however,…”
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Risk factors for central venous catheter thrombotic complications in children and adolescents with cancer
Published in Cancer (01-09-2010)“…BACKGROUND: The use of central venous catheters (CVCs) has greatly improved the quality of care in children with cancer, yet these catheters may cause serious…”
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Post-thrombotic syndrome after central venous catheter removal in childhood cancer survivors: A prospective cohort study
Published in Pediatric blood & cancer (01-02-2015)“…Background Although the use of central venous catheters (CVCs) has greatly improved the quality of care of children with cancer, these catheters increase the…”
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P1633: LOW SERUM BDNF LEVELS ARE ASSOCIATED WITH LOWER PLATELETS’ CD62P REACTIVITY AND INCREASED BLEEDING TENDENCY IN PATIENTS WITH GAUCHER DISEASE
Published in HemaSphere (23-06-2022)Get full text
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P979: EXOSOMES IN POLYCYTHEMIA VERA: “MINI PLATELETS“ WITH THROMBOGENIC POTENTIAL
Published in HemaSphere (23-06-2022)Get full text
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Activity of cytochrome P450 1A2 in relation to hepatic iron accumulation in transfusion-dependent β-thalassaemia major patients
Published in Vox sanguinis (01-04-2015)“…Background Cytochrome P450 1A2 (CYP1A2) is a cytochrome enzyme with a pivotal role in hepatic drug metabolism. Data from CYP1A2(−/−) mouse suggest that CYP1A2…”
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P835: GENETIC BACKGROUND AND CLINICAL CHARACTERISTICS OF CONGENITAL NEUTROPENIAS IN ISRAEL
Published in HemaSphere (23-06-2022)Get full text
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Effect of intracranial bleeds on the neurocognitive, academic, behavioural and adaptive functioning of boys with haemophilia
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-03-2012)“…Brain insults are a risk factor for neuropsychological and academic deficits across several paediatric conditions. However, little is known about the specific…”
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Natural history of arterial and venous thrombosis in children treated with low molecular weight heparin: a longitudinal study by ultrasound
Published in Journal of thrombosis and haemostasis (01-01-2004)“…Low molecular weight heparin (LMWH) is efficacious in preventing recurrent thromboembolic events (TEs) in children. The efficacy of LMWH in resolving thrombus…”
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The changing face of hepatitis in boys with haemophilia associated with increased prevalence of obesity
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-07-2011)“…Hepatitis in children with haemophilia was historically most often associated with transfusion‐transmitted infections. However, with the use of recombinant…”
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Antiphospholipid syndrome and recurrent thrombosis in children
Published in Arthritis and rheumatism (15-12-2006)“…Objective Few studies have addressed antiphospholipid syndrome (APS) among children. Our aims were to analyze the clinical and laboratory manifestations in a…”
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Evaluation of children with a suspected bleeding disorder applying the Impact‐R [Cone and Plate(let) Analyzer]
Published in Journal of thrombosis and haemostasis (01-12-2009)“…Background: A convenient screening test for children with bleeding symptoms before more labor‐intensive diagnostic steps are taken would be of value. The…”
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In vitro and in vivo stability of diluted recombinant factor VIII for continuous infusion use in haemophilia A
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-01-2010)“…Factor VIII (FVIII) replacement by continuous infusion (CI) is used postoperatively or after significant bleeding. For young paediatric patients, CI may…”
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Non-fermentative Gram-negative rods bacteremia in children with cancer: a 14-year single-center experience
Published in Infection (01-06-2017)“…Purpose Data on non-fermentative Gram-negative rods (NFGNR) bacteremia in children with malignancies are limited. The aim of this study was to present clinical…”
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Prothrombotic conditions in an unselected cohort of children with venous thromboembolic disease
Published in Journal of thrombosis and haemostasis (01-05-2003)“…Venous thromboembolic events (VTEs) in children are usually associated with underlying clinical conditions. The added contribution of prothrombotic conditions…”
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Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease
Published in Haematologica (Roma) (01-09-2015)“…Autoimmune lymphoproliferative syndrome is frequently caused by mutations in genes involved in the Fas death receptor pathway, but for 20-30% of patients the…”
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Clinical outcome of umbilical artery catheter-related thrombosis—a cohort study
Published in Journal of perinatology (01-12-2012)“…Objective: To reveal the incidence of umbilical artery catheter-related thrombosis (UACRT), the associated risk factors and the natural history of clot…”
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