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Expert Review of Molecular Diagnostics Volume 4, 2004 - Issue 2
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Review

Molecular diagnostics of acute intermittent porphyria

Raili Kauppinen Department of Medicine, University Hospital of Helsinki, Biomedicum-Helsinki, BOX 700 00029 HUS, Helsinki, Finland. [email protected]
Pages 243-249 | Published online: 09 Jan 2014

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Elena Pischik & Raili Kauppinen. (2015) An update of clinical management of acute intermittent porphyria. The Application of Clinical Genetics 8, pages 201-214.
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Articles from other publishers (10)

K. Baumann & R. Kauppinen. (2020) Penetrance and predictive value of genetic screening in acute porphyria. Molecular Genetics and Metabolism 130:1, pages 87-99.
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Cindy Shin-Yi Lin, Susanna B. Park & Arun V. Krishnan. 2013. Peripheral Nerve Disorders. Peripheral Nerve Disorders 613 627 .
Dana Ulbrichova-Douderova & Pavel Martasek. (2009) Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. Analytical Biochemistry 395:1, pages 41-48.
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Paolo Ventura, Maria Domenica Cappellini & Emilio Rocchi. (2009) The acute porphyrias: a diagnostic and therapeutic challenge in internal and emergency medicine. Internal and Emergency Medicine 4:4, pages 297-308.
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Sharon D Whatley, Nicola G Mason, Jacqueline R Woolf, Robert G Newcombe, George H Elder & Michael N Badminton. (2009) Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene. Clinical Chemistry 55:7, pages 1406-1414.
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David EllisonJohn Harris, Leila Chimelli, Jillian Kril & David Ray. 2008. Greenfield's Neuropathology Eighth Edition. 2 Volume Set and DVD. Greenfield's Neuropathology Eighth Edition. 2 Volume Set and DVD 675 731 .
Shigeru Sassa. (2006) Modern diagnosis and management of the porphyrias. British Journal of Haematology 135:3, pages 281-292.
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U. Groß, H. Puy, K. Jacob, J. C. Deybach, J. Kremer & M. O. Doss. (2006) Biochemical compared to molecular diagnosis in acute intermittent porphyria. Journal of Inherited Metabolic Disease 29:1, pages 157-161.
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Raili Kauppinen. (2005) Porphyrias. The Lancet 365:9455, pages 241-252.
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. 2005. Handbook of Epilepsy Treatment. Handbook of Epilepsy Treatment 278 292 .

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