Results 81 to 90 of about 1,008,568 (216)

Pharmacogenetics of Efavirenz response in Bantu-speaking South African HIV/AIDS patients [PDF]

open access: yes, 2011
Includes abstract.Includes bibliographical references (leaves 82-96).Efavirenz (EFV) is used in first-line antiretroviral (ARV) therapy of HIV-infected patients, and is principally metabolised by CYP1A2, CYP2A6, CYP2B6, CYP3A4/5 and the drug transporter ...
Swart, Marelize
core  

Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : a Mendelian randomisation analysis [PDF]

open access: yes, 2015
Funded by: UK Medical Research Council, British Heart Foundation, UK National Institute for Health Research, National Institute for Health Research Cambridge Biomedical Research Centre, European Research Council, and European Commission Framework ...
D. F. Easton (7608179)   +874 more
core   +1 more source

Clinical Application of Noninvasive Prenatal Testing in Singleton Pregnancy with and without in vitro Fertilization: A 6-year Observational Study at a Single Tertiary Center

open access: yesInternational Journal of Women's Health
Qian Zhang,* Yuhong Guo,* Bin Liang, Meihuan Chen, Xiaoqing Wu, Na Lin, Hailong Huang, Liangpu Xu Department of Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity ...
Zhang Q   +7 more
doaj  

Glycogen Storage Disease Type IX in a 6-year-old Male: A Case Report [PDF]

open access: yesJournal of Pediatrics Review
Background: Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by enzyme deficiencies affecting glycogen synthesis or breakdown. Glycogen, stored mainly in the liver and muscles, is crucial for maintaining glucose levels
Shahab Noorian   +4 more
doaj  

Cell and Gene Therapy: Transforming Treatment Paradigms for Patient‐Centric Care

open access: yesClinical and Translational Science
Cell and gene therapies (CGTs) are transforming medicine by offering potential cures for diseases previously considered untreatable. Despite rapid advancements, challenges remain in optimizing efficacy and safety and ensuring patient accessibility and ...
Sojeong Yi   +5 more
doaj   +1 more source

Heart Failure in the Molecular Era: Redefining Our Understanding of Disease Mechanisms and Perspectives

open access: yesBiomedicines
Heart failure (HF) is a global health challenge characterized by the heart’s inability to satisfy metabolic demands, driven by renin–angiotensin–aldosterone system (RAAS) overactivation, a neurohormonal imbalance, and emerging mechanisms like the gut ...
Manuel Mallol-Simmonds   +5 more
doaj   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism [PDF]

open access: yes
Inborn errors of metabolism (IEMs) are a group of disorders resulting from defects in enzymes in metabolic pathways. These disorders impact the processing of metabolites, leading to a wide array of effects on each organ system.
Cole Thompson   +4 more
core   +1 more source

Technology-responsive regulation for genome editing: legal design for a rapidly evolving biotechnology

open access: yesFrontiers in Bioengineering and Biotechnology
Genome editing has moved from an experimental research tool to a clinically relevant biotechnology, but its governance remains difficult because the technology itself continues to evolve.
Yong-Hong Bao   +5 more
doaj   +1 more source

Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. [PDF]

open access: yesElife, 2022
Sabharwal A   +20 more
europepmc   +1 more source

Gene Therapy: A Paradigm Shift in Dentistry [PDF]

open access: yes, 2016
Gene therapy holds a promising future for bridging the gap between the disciplines of medicine and clinical dentistry. The dynamic treatment approaches of gene therapy have been advancing by leaps and bounds.
Nida Siddique   +4 more
core   +1 more source

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