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References

These sources were used to develop the Genetics Home Reference gene summary on the ALAD gene.

Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S. delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations. Mol Genet Metab. 2006 Apr;87(4):329-36. Epub 2005 Dec 15. PubMed citation
Akagi R, Nishitani C, Harigae H, Horie Y, Garbaczewski L, Hassoun A, Mercelis R, Verstraeten L, Sassa S. Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. Blood. 2000 Nov 15;96(10):3618-23. PubMed citation
Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28(3):277-86. Review. PubMed citation
Entrez Gene
Jaffe EK, Stith L. ALAD porphyria is a conformational disease. Am J Hum Genet. 2007 Feb;80(2):329-37. Epub 2006 Dec 21. PubMed citation
Jaffe EK. The porphobilinogen synthase catalyzed reaction mechanism. Bioorg Chem. 2004 Oct;32(5):316-25. Review. PubMed citation
Kauppinen R. Porphyrias. Lancet. 2005 Jan 15-21;365(9455):241-52. Review. PubMed citation
Kelada SN, Shelton E, Kaufmann RB, Khoury MJ. Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review. Am J Epidemiol. 2001 Jul 1;154(1):1-13. Review. PubMed citation
Maruno M, Furuyama K, Akagi R, Horie Y, Meguro K, Garbaczewski L, Chiorazzi N, Doss MO, Hassoun A, Mercelis R, Verstraeten L, Harper P, Floderus Y, Thunell S, Sassa S. Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. Blood. 2001 May 15;97(10):2972-8. PubMed citation
Sassa S, Akagi R, Nishitani C, Harigae H, Furuyama K. Late-onset porphyrias: what are they? Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):97-101. Review. PubMed citation
Scinicariello F, Murray HE, Moffett DB, Abadin HG, Sexton MJ, Fowler BA. Lead and delta-aminolevulinic acid dehydratase polymorphism: where does it lead? A meta-analysis. Environ Health Perspect. 2007 Jan;115(1):35-41. PubMed citation