Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.
Hasanoglu A, et al. Among authors: ezgu fs.
J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20.
J Inherit Metab Dis. 2011.
PMID: 21103937
Free PMC article.