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A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many...
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Anti-Müllerian hormone does not predict cumulative pregnancy rate in non-infertile women following four IUI cycles with donor sperm
PurposeTo evaluate the predictive value of serum AMH for clinical pregnancy in non-infertile population undergoing intrauterine insemination with...
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Adenovirus infections after allogeneic hematopoietic cell transplantation in children and adults: a study from the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation
The objective of the study was the analysis of clinical types, outcomes, and risk factors associated with the outcome of adenovirus (ADV) infection,...
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Assessment of the Prognostic Importance of The Revised International Staging System Based on Plasmacytoma Presentation in Recently Diagnosed Patients with Multiple Myeloma
The rapid development of fluorescence in situ hybridization (FISH) karyoty** led to the discovery of the significant prognostic impact of certain...
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B Lineage Acute Lymphoblastic Leukemia with concurrent IGH and EPOR rearrangements – An Entity with Dismal Outcome
The EPOR rearrangement, an uncommon cytogenetic abnormality linked to BCR::ABL1 -like B-ALL, is often underdiagnosed due to the absence of a robust...
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Does the gestational age at which the glucose challenge test (GCT) is conducted influence the diagnosis of gestational diabetes mellitus (GDM)?
PurposeThis study’s objective is to investigate disparities in the rates of gestational diabetes mellitus (GDM) diagnosis, influenced by the timing...
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Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study
BackgroundHypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade ® , an...
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Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
PurposeAn increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying...
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Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany
BackgroundFabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting in...
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Comparative effects of different treatments based on the levonorgestrel intrauterine system in endometrial carcinoma and endometrial hyperplasia patients: a network meta-analysis
ObjectiveLevonorgestrel intrauterine system (LNG-IUS) has been widely used in patients with endometrial carcinoma (EC), endometrial hyperplasia...
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Circulating circ_0069094 is Correlated with the Present and Endothelial Injury of Acute Coronary Syndrome
To investigate the impacts of circ_0069094 on acute coronary syndrome. Real-time polymerase chain reaction was used to detect the expression levels...
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Genetic factors of oocyte maturation arrest: an important cause for recurrent IVF/ICSI failures
Oocyte maturation arrest (OMA) is a common phenotype observed in IVF/ICSI cycles, characterized by the production of immature oocytes which lead to...
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Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients
ObjectivesWilson disease (WD) is a rare genetic disease affecting copper metabolism and the biliary tract’s copper excretion. Lifelong medication is...
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Morphological Features of the Vertebrobasilar System Predict Ischemic Stroke Risk in Spontaneous Vertebral Artery Dissection
The vertebral artery’s morphological characteristics are crucial in spontaneous vertebral artery dissection (sVAD). We aimed to investigate...
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TMAO Impairs Mouse Aortic Vasodilation by Inhibiting TRPV4 Channels in Endothelial Cells
Trimethylamine oxide (TMAO) is an intestinal flora metabolite associated with risk of cardiovascular diseases. Transient receptor potential vanilloid...
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Terminologia Anatomica 2nd edition: perspectives from anatomy educators in the United Kingdom
English anatomical terminology has evolved over the long history of anatomical practice, with major influences from ancient Greek, classical Latin,...
