Erratum: European specialist porphyria laboratories: Diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program (Clinical Chemistry (2011) 57, (1514 -1523) DOI: 10.1373/clinchem.2011.170357);European specialist porphyria laboratories: Diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program

Clinical Chemistry

Volumn 57, Issue 11, 2011, Pages 1514-1523

  Aarsand, Aasne K ^a   Villanger, Jørild H ^a   Støle, Egil ^a   Deybach, Jean Charles ^b   Marsden, Joanne ^c   To Figueras, Jordi ^d   Badminton, Mike ^e   Elder, George H ^e   Sandberg, Sverre ^a,f  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b HÔPITAL LOUIS MOURIER   (France)

^c KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^d UNIVERSITY OF BARCELONA   (Spain)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; CREATININE; FERROCHELATASE; HEPTAPORPHYRIN; HEXAPORPHYRIN; ISOCOPROPORPHYRIN; PENTAPORPHYRIN; PORPHYRIN; PROTOPORPHYRIN; UNCLASSIFIED DRUG; UROPORPHYRIN;

ANALYTIC METHOD; ARTICLE; BIOLOGICAL ACTIVITY; CHEMICAL ANALYSIS; CLINICAL ASSESSMENT; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DNA DETERMINATION; FECES ANALYSIS; FLUORESCENCE ANALYSIS; HUMAN; LABORATORY TEST; MEDICAL HISTORY; PATIENT CARE; PORPHYRIA; PROTEIN BLOOD LEVEL; QUALITY CONTROL;

EID: 80055099875     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.179168     Document Type: Erratum

References (29)

1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010;375:924-37.
2. Deacon AC, Whatley SD, Elder GH. Porphyrins and disorders of porphyrin metabolism. In: Burtis CA, Ashwood ER, Bruns DE, eds. Tietz textbook of clinical chemistry and molecular diagnostics, 4th ed. St Louis: Elsevier Saunders 2006;1209-35.
3. Steiner RD. Evidence based medicine in inborn errors of metabolism: is there any and how to find it. Am J Med Genet A 2005;134A:192-7. (Pubitemid 40446216)
4. European Porphyria Initiative. http://www. porphyria-europe.org (Accessed June 2011).
5. European Porphyria Network. Specialist porphyria laboratory section. http://www.porphyriaeurope.org/02-for-healthcare/Specialist-Centres/ table-spc.asp (Accessed October 2011).
6. Aarsand AK, Boman H, Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem 2009;55:795-803.
7. Petersen PH, Fraser CG, Jorgensen L, Brandslund I, Stahl M, Gowans E, et al. Combination of analytical quality specifications based on biological within- and between-subject variation. Ann Clin Biochem 2002;39:543-50. (Pubitemid 35316286)
8. Aarsand AK, Petersen PH, Sandberg S. Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria. Clin Chem 2006;52:650-6.
9. Queralto JM. Intraindividual reference values. Clin Chem Lab Med 2004;42:765-77. (Pubitemid 39137226)
10. Swiss Society of Medical Genetics. Best practice guidelines on reporting in molecular genetic diagnostic laboratories in Switzerland. v1/2003. http://www.sgmg.ch/user-files/images/SGMG- Reporting-Guidelines.pdf (Accessed December 2009).
11. Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clin Chem 2009;55: 1406-14.
12. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol 2006;135:281-92. (Pubitemid 44484835)
13. Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem 2002;48:1891-900.
14. Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 1980;12:837-53.
15. Kuhnel A, Gross U, Doss MO. Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients. Clin Biochem 2000;33:465-73.
16. Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem 2004;50:915-23. (Pubitemid 38543671)
17. Blake D, McManus J, Cronin V, Ratnaike S. Fecal coproporphyrin isomers in hereditary coproporphyria. Clin Chem 1992;38:96-100.
18. Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500-7. (Pubitemid 32642936)
19. Thunell S, Harper P, Brun A. Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythropoietic protoporphyria-diagnosis, care and monitoring of the patient. Scand J Clin Lab Invest 2000;60:581-604. (Pubitemid 32052518)
20. Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, et al. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Am J Hum Genet 2001;68:1130-8. (Pubitemid 32424412)
21. Ruijter GJ, Boer M, Weykamp CW, de Vries R, van den Berg I, Janssens-Puister J, et al. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study. J Inherit Metab Dis 2005;28:979-90. (Pubitemid 43168935)
22. Fowler B, Burlina A, Kozich V, Vianey-Saban C. Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM. J Inherit Metab Dis 2008;31:680-9.
23. Elder GH. Porphyria cutanea tarda. Semin Liver Dis 1998;18:67-75. (Pubitemid 28133445)
24. Allen KR, Rushworth PA, Degg TJ, Barth JH. Measurement of urinary porphobilinogen and porphyrins: preliminary data from a pilot QA scheme. Ann Clin Biochem 1997;34:553-5. (Pubitemid 27379842)
25. Sugita M, Harada A, Taniguchi M, Saito M, Imaizumi K, Kitamura M et al. Quality control program on biological monitoring by Japan Federation of Occupational Health Organizations. Int Arch Occup Environ Health 1991;62:569-77.
26. Zuijderhoudt FM, Weykamp CW, Willems HL. Measurement of urinary porphyrins and porphyrin precursors in Dutch hospital laboratories: a review of quality control over 5 years. Ann Clin Biochem 2003;40:417-8. (Pubitemid 36819562)
27. Medical laboratories: particular requirements for quality and competence. ISO 15189:2007. http://www.iso.org/iso/iso-catalogue/catalogue-tc/ catalogue-detail.htm?csnumber=42641 (Accessed June 2011).
28. Peters V, Garbade SF, Langhans CD, Hoffmann GF, Pollitt RJ, Downing M, Bonham JR. Qualitative urinary organic acid analysis: methodological approaches and performance. J Inherit Metab Dis 2008;31:690-6.
29. Tan IK, Gajra B, Lim MS. External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. Ann Acad Med Singapore 2006;35:688-93. (Pubitemid 44845383)