Search Results - "Aarsand Aasne K."
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Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
Published in International journal of molecular sciences (12-01-2021)“…Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane…”
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Current Utility and Reliability of Biological Variability
Published in Clinical chemistry (01-08-2021)Get full text
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Health-related quality of life in porphyria cutanea tarda: a cross-sectional registry based study
Published in Health and quality of life outcomes (30-03-2020)“…Porphyria cutanea tarda (PCT) is a rare, photosensitive disease characterized by skin fragility and blistering on sun-exposed areas. There is little previous…”
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Self-efficacy and self-management strategies in acute intermittent porphyria
Published in BMC health services research (03-07-2019)“…Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene…”
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Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
Published in FEBS open bio (01-12-2022)“…Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole…”
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Personalized Reference Intervals in Laboratory Medicine: A New Model Based on Within-Subject Biological Variation
Published in Clinical chemistry (Baltimore, Md.) (30-01-2021)“…Abstract Background The concept of personalized medicine has received widespread attention in the last decade. However, personalized medicine depends on…”
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Critical appraisal and meta-analysis of biological variation studies on glycosylated albumin, glucose and HbA1c
Published in Advances in laboratory medicine (01-10-2020)“…ObjectivesNumerous biological variation (BV) studies have been performed over the years, but the quality of these studies vary. The objectives of this study…”
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Personalized reference intervals: from theory to practice
Published in Critical reviews in clinical laboratory sciences (01-11-2022)“…Using laboratory test results for diagnosis and monitoring requires a reliable reference to which the results can be compared. Currently, most reference data…”
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Personalized and Population-Based Reference Intervals for 48 Common Clinical Chemistry and Hematology Measurands: A Comparative Study
Published in Clinical chemistry (Baltimore, Md.) (01-09-2023)“…Abstract Background Personalized reference intervals (prRIs) have the potential to improve individual patient follow-up as compared to population-based…”
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Reference Intervals Revisited: A Novel Model for Population-Based Reference Intervals, Using a Small Sample Size and Biological Variation Data
Published in Clinical chemistry (Baltimore, Md.) (03-10-2024)“…Conventional population-based reference intervals (popRIs) are established on the ranking of single measurement results from at least 120 reference…”
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The European Biological Variation Study (EuBIVAS): a summary report
Published in Clinical chemistry and laboratory medicine (28-03-2022)“…Biological variation (BV) data have many important applications in laboratory medicine. Concerns about quality of published BV data led the European Federation…”
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A Bayesian Approach to Biological Variation Analysis
Published in Clinical chemistry (Baltimore, Md.) (01-08-2019)“…Biological variation (BV) data have many applications for diagnosing and monitoring disease. The standard statistical approaches for estimating BV are…”
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The Biological Variation Data Critical Appraisal Checklist: A Standard for Evaluating Studies on Biological Variation
Published in Clinical chemistry (Baltimore, Md.) (01-03-2018)“…Concern has been raised about the quality of available biological variation (BV) estimates and the effect of their application in clinical practice. A European…”
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Practical recommendations for biochemical and genetic diagnosis of the porphyrias
Published in Liver international (28-06-2024)“…The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long-term complications, making them relevant…”
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Biological variation: recent development and future challenges
Published in Clinical chemistry and laboratory medicine (25-04-2023)“…Biological variation (BV) data have many applications in laboratory medicine. However, these depend on the availability of relevant and robust BV data fit for…”
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A New Concept for Reference Change Values-Regression to the Population Mean
Published in Clinical chemistry (Baltimore, Md.) (01-08-2024)“…Reference change values (RCV) are used to indicate a change in analyte concentration that is unlikely to be due to random variation in the patient or the…”
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The EuBIVAS: Within- and Between-Subject Biological Variation Data for Electrolytes, Lipids, Urea, Uric Acid, Total Protein, Total Bilirubin, Direct Bilirubin, and Glucose
Published in Clinical chemistry (Baltimore, Md.) (01-09-2018)“…The European Federation of Clinical Chemistry and Laboratory Medicine European Biological Variation Study (EuBIVAS) has been established to deliver rigorously…”
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How to achieve harmonisation of laboratory testing —The complete picture
Published in Clinica chimica acta (15-05-2014)“…Harmonisation is likely to be an important contributor to ensure high quality laboratory testing, thus potentially improving patient outcome. Efforts for…”
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Biological variation of venous acid-base status measurands in athletes
Published in Clinica chimica acta (01-12-2021)“…•Biological variation for acid-base measurands appears higher in athletes than the general population.•There was no demonstrable effect by intensity and…”
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