Klinisk Biokemi i Norden Nr 3, vol. 25, 2013 - page 39

Klinisk Biokemi i Norden · 3 2013
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Aasne K. Aarsand disputerte fredag 2. november 2012
for PhD-graden ved Universitetet i Bergen:
Diagnosing and monitoring the porphyrias.
With special emphasis on how to interpret changes in
urinary porphobilinogen in acute intermittent porp-
hyria, differentiate sporadic and familial porphyria
cutanea tarda and on the performance of specialist
porphyria laboratories.
Avhandlingen i sin helhet er tilgjengelig ved henven-
delse til forfatteren.
References
1. Puy H, Gouya L, Deybach JC. Porphyrias.
Lancet 2010;375:924-37.
2. Badminton MN, Whatley SD, Deacon AC,
Elder GH. The porphyrins and other disor-
ders of porphyrin metabolism. In: Burtis CA,
Bruns DE, Ashwood ER, eds. Tietz Textbook
of Clinical Chemistry and Molecular Diag-
nostics, 5th ed. St Louis: Elsevier Saunders,
2012:1031-55.
3. European Porphyria Network (EPNET). Spe-
cialist porphyria laboratory section.
http://
/
Specialist-Centres/table-spc.asp
, (Accessed
June 2013).
4. 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.
5. von und zu Fraunberg M, Pischik E, Udd
L, Kauppinen R. Clinical and biochemical
characteristics and genotype-phenotype cor-
relation in 143 Finnish and Russian patients
with acute intermittent porphyria. Medicine
(Baltimore) 2005;84:35-47.
6. Aarsand AK, Petersen PH, Sandberg S. Esti-
mation and application of biological varia-
tion of urinary delta-aminolevulinic acid and
porphobilinogen in healthy individuals and
in patients with acute intermittent porphyria.
Clin Chem 2006;52:650-6.
7. Aarsand AK, Boman H, Sandberg S. Familial
and sporadic porphyria cutanea tarda: cha-
racterization and diagnostic strategies. Clin
Chem 2009;55:795-803.
8. Brady JJ, Jackson HA, Roberts AG, Whatley
SD, Rowlands GL, Darby C et al. Co-inheri-
tance of mutations in the uroporphyrinogen
decarboxylase and hemochromatosis genes
accelerates the onset of porphyria cutanea
tarda. J Invest Dermatol 2000;115:868-74.
9. Christiansen L, Bygum A, Jensen A, Brandrup
F, Thomsen K, Horder M, Petersen NE. Uro-
porphyrinogen decarboxylase gene mutations
in Danish patients with porphyria cutanea
tarda. Scand J Clin Lab Invest 2000;60:611-5.
10. Bulaj ZJ, Phillips JD, Ajioka RS, Franklin MR,
Griffen LM, Guinee DJ et al. Hemochromato-
sis genes and other factors contributing to
the pathogenesis of porphyria cutanea tarda.
Blood 2000;95:1565-71.
11. Mendez M, Poblete-Gutierrez P, Garcia-Bravo
M, Wiederholt T, Moran-Jimenez MJ, Merk
HF et al. Molecular heterogeneity of familial
porphyria cutanea tarda in Spain: characte-
rization of 10 novel mutations in the UROD
gene. Br J Dermatol 2007;157:501-7.
12. Badenas C, To-Figueras J, Phillips JD, Warby
CA, Munoz C, Herrero C. Identification and
characterization of novel uroporphyrinogen
decarboxylase gene mutations in a large series
of porphyria cutanea tarda patients and relati-
ves. Clin Genet 2009;75:346-53.
13. Aarsand AK, Villanger JH, Stole E, Deybach
JC, Marsden J, To-Figueras J et al. European
specialist porphyria laboratories: diagnostic
strategies, analytical quality, clinical interpre-
tation, and reporting as assessed by an exter-
nal quality assurance program. Clin Chem
2011;57:1514-23.
14. Norwegian Porphyria Centre. EPNET Exter-
nal Quality Assessment Scheme.
.
helse-bergen.no/omoss/avdelinger/napos/
european-porphyria-network/Sider/epnet-
eqas.aspx
, (Accessed June 2013).
15. European Porphyria Network (EPNET).
http://
/
, (Accessed June
2013).
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