ArticleJournal of inherited metabolic disease2008
Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.
Article in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 3 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).European journal of human genetics : EJHG · 2014Guideline
- The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.Journal of inherited metabolic disease · 2022Review
- Technical Aspects of Coenzyme QAntioxidants (Basel, Switzerland) · 2022Article
- Method comparison of HPLC-ninhydrin-photometry and UHPLC-PITC-tandem mass spectrometry for serum amino acid analyses in patients with complex congenital heart disease and controls.Metabolomics : Official journal of the Metabolomic Society · 2020Article
- Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome.Journal of inherited metabolic disease · 2018Review
- CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Cerebrospinal Fluid Amino Acid Profiling of Pediatric Cases with Tuberculous Meningitis.Frontiers in neuroscience · 2017Article
- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.JIMD reports · 2016Article
- Serum metabolomic profiles suggest influence of sex and oral contraceptive use.American journal of translational research · 2014Article
- Cystinosis: practical tools for diagnosis and treatment.Pediatric nephrology (Berlin, Germany) · 2011Review
- Approaches to quality management and accreditation in a genetic testing laboratory.European journal of human genetics : EJHG · 2010Article
- The importance and value of EQA for diagnostic genetic laboratories.Journal of community genetics · 2010Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests. ERNDIM (European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism), established in 1994, operates nine EQA schemes for biochemical genetic testing according to international norms and recommendations. These comprise qualitative schemes for amino acids, organic acids, purines and pyrimidines, special assays in serum and urine and white cell cystine, qualitative organic acid and acylcarnitine schemes, as well as diagnostic proficiency testing. The total number of participants has increased from 123 in 1994 to 268 in 2007. Additional activities include participation in the Eurogentest project, a laboratory directory, training, education and development of guidelines. Results from the quantitative amino acid scheme with 170 participants reveal good variation within and between laboratories of below 10% for 10 amino acids; good within-laboratory variation but intermediate inter-laboratory variation of 10-22% for 11 amino acids; and higher variation within and between laboratories for 8 amino acids. Results on samples from 51 inherited metabolic disorders from two of five centres organizing diagnostic proficiency testing indicate overall diagnostic efficiency above 80% and improved performance of individual laboratories. Comparison of results for 10 and 12 compounds in the serum and urine special assay schemes respectively for 2000 and 2007 reveal clear improvement of precision within laboratories and in inter-laboratory variation. There is considerable evidence that performance in biochemical genetic testing has improved since the introduction of ERNDIM schemes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.