J. Woolf

发表

Congenital erythropoietic porphyria: a single‐observer clinical study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Best practice guidelines on first-line laboratory testing for porphyria

M. F. Stewart, J. Marsden, M. Badminton, 2017, Annals of clinical biochemistry.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma

R. Newcombe, A. Finlay, G. Murphy, 1993, The British journal of dermatology.

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

J. Deybach, H. Puy, G. Elder, 2001, American journal of human genetics.

Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.

R. Newcombe, M. Badminton, G. Elder, 2009, Clinical chemistry.

Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations

G. Elder, S. Whatley, J. Woolf, 1999, Human Genetics.

Congenital erythropoietic porphyria in a longhorn calf

E. Lloyd, J. Huxley, B. Strugnell, 2009, Veterinary Record.

Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)

Z. Gucev, V. Tasic, N. Pop-Jordanova, 2011, Indian journal of human genetics.