Porphyrias at a glance: diagnosis and treatment

Author:

Cappellini Maria Domenica,Brancaleoni Valentina,Graziadei Giovanna,Tavazzi Dario,Di Pierro Elena

Publisher

Springer Science and Business Media LLC

Subject

Emergency Medicine,Internal Medicine

Reference77 articles.

1. Ventura E, Rocchi E (2001) Le Porfirie. In: Guarini G, Fiorelli G, Malliani A, Violi E, Volpe M (eds) Trattato di Medicina Interna Societa` Editrice Universo, Roma, pp 2301–2334

2. Andersson K, Sassa A, Bishop D (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver C, Beaudet A, Sly W, Valle D et al (eds) The metabolic and molecular basis of inherited diseases. McGraw-Hill, New York, pp 2991–3062

3. Lim CK, Peters TJ (1984) Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin Chim Acta 139:55–63

4. Aarsand AK, Petersen PH, Sandberg S (2006) 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 52:650–656

5. Kuhnel A, Gross U, Doss MO (2000) Hereditary coproporphyria in Germany: clinical–biochemical studies in 53 patients. Clin Biochem 33:465–473

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