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Erythropoietic protoporphyria.
Published in:
2009
By:
- Lecha M;
- Puy H;
- Deybach JC;
- Lecha, Mario;
- Puy, Hervé;
- Deybach, Jean-Charles
Publication type:
journal article
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Published in:
Human Genetics, 2000, v. 107, n. 2, p. 150, doi. 10.1007/s004390000323
By:
- Robreau-Fraolini, A.M.;
- Puy, H.;
- Aquaron, C.;
- Bogard, C.;
- Traore, M.;
- Nordmann, Y.;
- Aquaron, R.;
- Deybach, J.C.
Publication type:
Article
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2010, v. 24, n. 11, p. 1349, doi. 10.1111/j.1468-3083.2010.03640.x
By:
- Minder, E. I.;
- Schneider-Yin, X.;
- Mamet, R.;
- Horev, L.;
- Neuenschwander, S.;
- Baumer, A.;
- Austerlitz, F.;
- Puy, H.;
- Schoenfeld, N.
Publication type:
Article
European Porphyria Initiative (EPI): A Platform to Develop a Common Approach to the Management of Porphyrias and to Promote Research in the Field.
Published in:
Physiological Research, 2006, v. 55, p. S67, doi. 10.33549/physiolres.930000.55.s2.67
By:
- Deybach, J.-Ch.;
- Badminton, M.;
- Puy, H.;
- Sandberg, S.;
- Frank, J.;
- Harper, P.;
- Martasek, P.;
- Minder, E.;
- Parker, S.;
- Thunell, S.;
- Elder, G.
Publication type:
Article
Ursodesoxycholic Acid and Heme-Arginate are Unable to Improve Hematopoiesis and Liver Injury in an Erythropoietic Protoporphyria Mouse Model.
Published in:
Physiological Research, 2006, v. 55, p. S93, doi. 10.33549/physiolres.930000.55.s2.93
By:
- Abitbol, M.;
- Puy, H.;
- Sabaté, J.-M.;
- Guénet, J.-L.;
- Deybach, J.-Ch.;
- Montagutelli, X.
Publication type:
Article
May 2006 Update in Porphobilinogen Deaminase Gene Polymorphisms and Mutations Causing Acute Intermittent Porphyria. Comparison with the Situation in Slavic Population.
Published in:
Physiological Research, 2006, v. 55, p. S119, doi. 10.33549/physiolres.930000.55.s2.119
By:
- Hrdinka, M.;
- Puy, H.;
- Martasek, P.
Publication type:
Article
KDBI: Kinetic Data of Bio-molecular Interactions database.
Published in:
Nucleic Acids Research, 2003, v. 31, n. 1, p. 255, doi. 10.1093/nar/gkg067
By:
- Ji, Z. L.;
- Chen, X.;
- Zhen, C. J.;
- Yao, L. X.;
- Han, L. Y.;
- Yeo, W. K.;
- Chung, P. C.;
- Puy, H. S.;
- Tay, Y. T.;
- Muhammad, A.;
- Chen, Y. Z.
Publication type:
Article
Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa.
Published in:
2011
By:
- Deybach, J.-C.;
- Puy, H.
Publication type:
Editorial
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.
Published in:
Journal of Internal Medicine, 2009, v. 266, n. 3, p. 277, doi. 10.1111/j.1365-2796.2009.02118.x
By:
- Delaby, C.;
- To-Figueras, J.;
- Deybach, J. C.;
- Casamitjana, R;
- Puy, H.;
- Herrero, C.
Publication type:
Article
Biochemical compared to molecular diagnosis in acute intermittent porphyria.
Published in:
Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 157, doi. 10.1007/s10545-006-0155-9
By:
- Groß, U.;
- Puy, H.;
- Jacob, K.;
- Deybach, J.;
- Kremer, J.;
- Doss, M.
Publication type:
Article
A molecular, enzymatic and clinical study in a family with hereditary coproporphyria.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 279, doi. 10.1023/A:1016598207397
By:
- Gross, U.;
- Puy, H.;
- Meissauer, U.;
- Lamoril, J.;
- Deybach, J.;
- Doss, M.;
- Nordmann, Y.
Publication type:
Article
Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases.
Published in:
2004
By:
- Karoui, M.;
- Tresallet, C.;
- Julie, C.;
- Zimmermann, U.;
- Staroz, F.;
- Brams, A.;
- Muti, C.;
- Boulard, C.;
- Robreau, A. -M.;
- Puy, H.;
- Malafosse, R.;
- Penna, C.;
- Pruvot, F. -R.;
- Theiry, J. P.;
- Boileau, C.;
- Rougier, P.;
- Nordlinger, B.;
- Radvanyi, F.;
- Franc, B.;
- Thiery, J P
Publication type:
journal article
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
Published in:
Human Mutation, 1999, v. 13, n. 1, p. 44, doi. 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q
By:
- Rosipal, R.;
- Lamoril, J.;
- Puy, H.;
- Da Silva, V.;
- Gouya, L.;
- De Rooij, F.W.M.;
- Te Velde, K.;
- Nordmann, Y.;
- Martàsek, P.;
- Deybach, J.C.
Publication type:
Article
Detection of Four Novel Mutations in the Porphobilinogen Deaminase Gene in French Caucasian Patients with Acute Intermittent Porphyria.
Published in:
Human Heredity, 1996, v. 46, n. 3, p. 177, doi. 10.1159/000154349
By:
- Puy, H.;
- Deybach, J.C.;
- Lamoril, J.;
- Robreau, A.M.;
- Nordmann, Y.
Publication type:
Article
564 NT BNP versus BNP for the diagnosis of heart failure in patients over 75 years old
Published in:
2004
By:
- El Mahmoud, R.;
- Alibay, Y.;
- Brun-Ney, D.;
- Boulard, J.C.;
- Puy, H.;
- Jondeau, G.
Publication type:
Abstract
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France.
Published in:
British Journal of Dermatology, 2016, v. 175, n. 4, p. 768, doi. 10.1111/bjd.14600
By:
- Bataille, S.;
- Dutartre, H.;
- Puy, H.;
- Deybach, J. ‐ C.;
- Gouya, L.;
- Raffray, E.;
- Pithon, M.;
- Stalder, J. ‐ F.;
- Nguyen, J. ‐ M.;
- Barbarot, S.
Publication type:
Article
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Published in:
British Journal of Dermatology, 2012, v. 167, n. 4, p. 901, doi. 10.1111/j.1365-2133.2012.11160.x
By:
- 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.
Publication type:
Article
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.
Published in:
British Journal of Dermatology, 2012, v. 167, n. 4, p. 888, doi. 10.1111/j.1365-2133.2012.11154.x
By:
- 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.
Publication type:
Article
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda.
Published in:
British Journal of Dermatology, 2012, v. 166, n. 2, p. 425, doi. 10.1111/j.1365-2133.2011.10642.x
By:
- Tchernitchko, D.;
- Robréau, A.M.;
- Lefebvre, T.;
- Lamoril, J.;
- Deybach, J.C.;
- Puy, H.
Publication type:
Article

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