Puy H - Search Results

1

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

Oustric V, Manceau H, Ducamp S, Soaid R, Karim Z, Schmitt C, Mirmiran A, Peoc'h K, Grandchamp B, Beaumont C, Lyoumi S, Moreau-Gaudry F, Guyonnet-Dupérat V, de Verneuil H, Marie J, Puy H, Deybach JC, Gouya L. Oustric V, et al. Among authors: puy h. Am J Hum Genet. 2014 Apr 3;94(4):611-7. doi: 10.1016/j.ajhg.2014.02.010. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680888 Free PMC article.

2

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.

Da Silva V, Simonin S, Deybach JC, Puy H, Nordmann Y. Da Silva V, et al. Among authors: puy h. Clin Chim Acta. 1995 Jul 14;238(2):163-8. doi: 10.1016/0009-8981(95)06085-r. Clin Chim Acta. 1995. PMID: 7586575 Clinical Trial.

3

Porphobilinogen deaminase gene structure and molecular defects.

Deybach JC, Puy H. Deybach JC, et al. Among authors: puy h. J Bioenerg Biomembr. 1995 Apr;27(2):197-205. doi: 10.1007/BF02110034. J Bioenerg Biomembr. 1995. PMID: 7592566 Review.

4

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

Grandchamp B, Lamoril J, Puy H. Grandchamp B, et al. Among authors: puy h. J Bioenerg Biomembr. 1995 Apr;27(2):215-9. doi: 10.1007/BF02110036. J Bioenerg Biomembr. 1995. PMID: 7592568 Review.

5

[Hepatic porphyrias and drugs].

Deybach JC, Puy H, Nordmann Y. Deybach JC, et al. Among authors: puy h. Gastroenterol Clin Biol. 1994;18(4):348-53. Gastroenterol Clin Biol. 1994. PMID: 7958651 Review. French. No abstract available.

6

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.

Puy H, Deybach JC, Baudry P, Callebert J, Touitou Y, Nordmann Y. Puy H, et al. Life Sci. 1993;53(8):621-7. doi: 10.1016/0024-3205(93)90271-4. Life Sci. 1993. PMID: 8350677

7

Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat.

Puy H, Deybach JC, Bogdan A, Callebert J, Baumgartner M, Voisin P, Nordmann Y, Touitou Y. Puy H, et al. J Clin Invest. 1996 Jan 1;97(1):104-10. doi: 10.1172/JCI118376. J Clin Invest. 1996. PMID: 8550820 Free PMC article.

8

Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

Puy H, Robréau AM, Rosipal R, Nordmann Y, Deybach JC. Puy H, et al. Biochem Biophys Res Commun. 1996 Sep 4;226(1):226-30. doi: 10.1006/bbrc.1996.1337. Biochem Biophys Res Commun. 1996. PMID: 8806618

9

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

Deybach JC, Puy H, Robréau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y. Deybach JC, et al. Among authors: puy h. Hum Mol Genet. 1996 Mar;5(3):407-10. doi: 10.1093/hmg/5.3.407. Hum Mol Genet. 1996. PMID: 8852667

10

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.

Puy H, Deybach JC, Lamoril J, Robreau AM, Nordmann Y. Puy H, et al. Hum Hered. 1996 May-Jun;46(3):177-80. doi: 10.1159/000154349. Hum Hered. 1996. PMID: 8860014

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