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Journal of Inherited Metabolic Disease|January 1, 1990
A retrospective study of a patient with homozygous form of acute intermittent porphyriaG J Beukeveld, B G Wolthers, Y Nordmann, et al.The Journal of Clinical Investigation|January 1, 1996
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the ratH Puy, J C Deybach, A Bogdan, et al.American Journal of Human Genetics|August 1, 1991
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseM H Delfau, C Picat, F De Rooij, et al.Molecular and Cellular Probes|February 5, 2000
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyriaU Gross, H Puy, M Doss, et al.Clinical Chemistry and Laboratory Medicine|December 16, 1998
Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patientsU B Rüfenacht, X Schneider-Yin, B W Schäfer, et al.Human Molecular Genetics|March 1, 1996
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyriaJ C Deybach, H Puy, A M Robréau, et al.Journal of Inherited Metabolic Disease|September 14, 2002
A molecular, enzymatic and clinical study in a family with hereditary coproporphyriaU Gross, H Puy, U Meissauer, et al.Human Genetics|January 1, 1994
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresisX F Gu, F de Rooij, G Voortman, et al.Presse Medicale (Paris, France : 1983)|October 4, 1986
[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases]J F Devars du Mayne, J C Deybach, L Phung, et al.Cellular and Molecular Biology (Noisy-Le-Grand, France)|March 10, 2009
Excessive erythrocyte PPIX influences the hematologic status and iron metabolism in patients with dominant erythropoietic protoporphyriaC Delaby, S Lyoumi, S Ducamp, et al.Pageof 9