Porphyrins, porphobilinogen, and δ-aminolevulinic acid

Laboratory Guide to the Methods in Biochemical Genetics

Volumn , Issue , 2008, Pages 751-780

  Minder, Elisabeth I ^a   Schneider Yin, Xiaoye ^a  

^a Chemie Zentrallabor   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 65249083790     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-76698-8_33     Document Type: Chapter

References (19)

1. Minder EI, Schneider-Yin X (2007) The porphyrias. In: Rod? J, Benhamou JP, Blei A, Reichen J, Rizzetto M (eds) Textbook of Hepatology: From Basic Science to Clinical Practice. Blackwell, Oxford UK, pp 1343-1351
2. Minder EI, Schneider-Yin X (2002) The porphyrias. In: Blau N, Duran M, Blaskovics ME, Gibson KM (eds) Physician's Guide to The Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg, New York, pp 593-613
3. Bishop DF, Henderson AS, Astrin KH (1990) Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. Genomics 7:207-214
4. Grandchamp B, Picat C, Mignotte V, Wilson JH, Te Velde K, Sandkuyl L, Rom PH, Goossens M, Nordmann Y (1989) Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci U S A 86:661-664
5. Tugores A, Magness ST, Brenner DA (1994) A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene. J Biol Chem 269:30789-30797
6. Sandberg S, Elder GH (2004) Diagnosing acute porphyrias. Clin Chem 50:803-805
7. Mauzerall D, Granick S (1995) The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine. J Biol Chem 219:435-446
8. Doss M, Schmidt A (1972) Zwei Suchteste f Porphyrien. Z Klin Chem Klin Biochem 5:230-231
9. 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
10. Minder EI, Vuilleumier JP, Vonderschmitt DJ (1992) Prototype application of robot in the clinical laboratory enabling fully automated quantification of fecal porphyrins. Clin Chem 38:516-521
11. Minder EI (1993) Coproporphyrin isomers in acute-intermittent porphyria. Scand J Clin Lab Invest 53:87-90
12. Hift RJ, Meissner PN (2005) An analysis of 112 acute porphyric attacks in Cape Town, South Africa. Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine 84:48-60
13. Piomelli S, Davidow B, Guinee VF, Young P, Gay G (1973) The FEP (free erythrocyte porphyrins) test: a screening micromethod for lead poisoning. Pediatrics 51:254-259
14. Grinstein M, Wintrobe MW (1948) Spectrophotometric micromethod for the quantitative determination of the free erythrocyte protoporphyrin. J Biol Chem 172:459-467
15. Rossi E, Garcia-Webb P (1986) Red cell zinc protoporphyrin and protoporphyrin by HPLC with fluorescence detection. Biomed Chromatogr 1:163-168
16. Grandchamp B (1998) Acute intermittent porphyria. Semin Liver Dis 18:17-24
17. Blincoe C (1974) The simultaneous separation and washing of erythrocytes. Clin Chim Acta 7:297-300
18. Schuurmans MM, Schneider-Yin X, Rufenacht UB, Schnyder C, Minder CE, Puy H, Deybach JC, Minder EI (2001) Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients. Mol Med 7:535-542
19. Berlin A, Schaller KH (1974) European standardized method for the determination of deltaaminolevulinic acid dehydratase activity in blood. Z Klin Chem Klin Biochem 12:389-390