Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver
Schmitt, C., Lenglet, H., Yu, A., Delaby, C., Benecke, A., Lefebvre, T., Letteron, P., Paradis, V., Wahlin, S., Sandberg, S., Harper, P., Sardh, E., Sandvik, A. K., Hov, J. R., Aarsand, A. K., Chiche, L., Bazille, C., Scoazec, J.‐Y., To-Figueras, J., Carrascal, M., Abian, J., Mirmiran, A., Karim, Z., Deybach, J.‐C., Puy, H., Peoc'h, K., Manceau, H., Gouya, L.
Published in Journal of internal medicine (01.07.2018)
Published in Journal of internal medicine (01.07.2018)
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Journal Article
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France
de Bataille, S., Dutartre, H., Puy, H., Deybach, J.-C., Gouya, L., Raffray, E., Pithon, M., Stalder, J.-F., Nguyen, J.-M., Barbarot, S.
Published in British journal of dermatology (1951) (01.10.2016)
Published in British journal of dermatology (1951) (01.10.2016)
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Journal Article
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
Katugampola, R.P., Anstey, A.V., Finlay, A.Y., Whatley, S., Woolf, J., Mason, N., Deybach, J.C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X., Badminton, M.N.
Published in British journal of dermatology (1951) (01.10.2012)
Published in British journal of dermatology (1951) (01.10.2012)
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Journal Article
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
Katugampola, R.P., Badminton, M.N., Finlay, A.Y., Whatley, S., Woolf, J., Mason, N., Deybach, J.C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X., Anstey, A.V.
Published in British journal of dermatology (1951) (01.10.2012)
Published in British journal of dermatology (1951) (01.10.2012)
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Journal Article
An atypical case of Guillain–Barré syndrome: acute intermittent porphyria
Cuquemelle, É., Ehrmann, S., Razazi, K., Deybach, J. C., Brun-Buisson, C., Thille, A. W.
Published in Intensive care medicine (01.05.2012)
Published in Intensive care medicine (01.05.2012)
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Journal Article
Role of two nutritional hepatic markers (insulin‐like growth factor 1 and transthyretin) in the clinical assessment and follow‐up of acute intermittent porphyria patients
Delaby, C., To‐Figueras, J., Deybach, J. C., Casamitjana, R, Puy, H., Herrero, C.
Published in Journal of internal medicine (01.09.2009)
Published in Journal of internal medicine (01.09.2009)
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Journal Article
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda
Tchernitchko, D., Robréau, A.M., Lefebvre, T., Lamoril, J., Deybach, J.C., Puy, H.
Published in British journal of dermatology (1951) (01.02.2012)
Published in British journal of dermatology (1951) (01.02.2012)
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Journal Article
Porphyrias and haem related disorders
Peoc'h, K, Martin-Schmitt, C, Talbi, N, Deybach, J-C, Gouya, L, Puy, H
Published in La revue de medecine interne (01.03.2016)
Published in La revue de medecine interne (01.03.2016)
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Journal Article
The molecular genetics of erythropoietic protoporphyria
Elder, G H, Gouya, L, Whatley, S D, Puy, H, Badminton, M N, Deybach, J-C
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.07.2009)
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.07.2009)
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Journal Article
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
Nordmann, Y., Puy, H., Da Silva, V., Simonin, S., Robreau, A. M., Bonaiti, C., Phung, L. N., Deybach, J. C.
Published in Journal of internal medicine (01.09.1997)
Published in Journal of internal medicine (01.09.1997)
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Journal Article
Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria
Puy, H., Deybach, J.C., Lamoril, J., Robreau, A.M., Da Silva, V., Gouya, L., Grandchamp, B., Nordmann, Y.
Published in American journal of human genetics (01.06.1997)
Published in American journal of human genetics (01.06.1997)
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Journal Article
Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria
Rüfenacht, U.B., Gouya, L., Schneider-Yin, X., Puy, H., Schäfer, B.W., Aquaron, R., Nordmann, Y., Minder, E.I., Deybach, J.C.
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients
Dubertret, C., Gorwood, P., Gouya, L., Deybach, J.C., Adès, J.
Published in Schizophrenia research (15.04.2001)
Published in Schizophrenia research (15.04.2001)
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Journal Article
The incidence of inherited porphyrias in Europe
Elder, George, Harper, Pauline, Badminton, Michael, Sandberg, Sverre, Deybach, Jean-Charles
Published in Journal of inherited metabolic disease (01.09.2013)
Published in Journal of inherited metabolic disease (01.09.2013)
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Journal Article
Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation
Gouya, Laurent, Puy, Herve, Lamoril, Jerôme, Da Silva, Vasco, Grandchamp, Bernard, Nordmann, Yves, Deybach, Jean-Charles
Published in Blood (15.03.1999)
Published in Blood (15.03.1999)
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Journal Article
Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword
Peoc'h, Katell, Manceau, Hana, Karim, Zoubida, Wahlin, Staffan, Gouya, Laurent, Puy, Hervé, Deybach, Jean-Charles
Published in Molecular genetics and metabolism (01.11.2019)
Published in Molecular genetics and metabolism (01.11.2019)
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Journal Article
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele
GOUYA, L, DEYBACH, J. C, LAMORIL, J, DA SILVA, V, BEAUMONT, C, GRANDCHAMP, B, NORDMANN, Y
Published in American journal of human genetics (01.02.1996)
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Published in American journal of human genetics (01.02.1996)
Journal Article
Molecular characterization of homozygous variegate porphyria
ROBERTS, A. G, PUY, H, DAILEY, T. A, MORGAN, R. R, WHATLEY, S. D, DAILEY, H. A, MARTASEK, P, NORDMANN, Y, DEYBACH, J.-C, ELDER, G. H
Published in Human molecular genetics (01.11.1998)
Published in Human molecular genetics (01.11.1998)
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