The Porphyrin Handbook, Volume 3 K Kadish, KM Smith, R Guilard Elsevier, 2000 | 3160 | 2000 |
Porphyrias H Puy, L Gouya, JC Deybach The Lancet 375 (9718), 924-937, 2010 | 899 | 2010 |
Gene therapy in a patient with sickle cell disease JA Ribeil, S Hacein-Bey-Abina, E Payen, A Magnani, M Semeraro, ... New England Journal of Medicine 376 (9), 848-855, 2017 | 778 | 2017 |
Gene therapy in patients with transfusion-dependent ā-thalassemia AA Thompson, MC Walters, J Kwiatkowski, JEJ Rasko, JA Ribeil, ... New England Journal of Medicine 378 (16), 1479-1493, 2018 | 757 | 2018 |
Performance of PIVKA-II for early hepatocellular carcinoma diagnosis and prediction of microvascular invasion N Poté, F Cauchy, M Albuquerque, H Voitot, J Belghiti, L Castera, H Puy, ... Journal of hepatology 62 (4), 848-854, 2015 | 358 | 2015 |
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload SD Whatley, S Ducamp, L Gouya, B Grandchamp, C Beaumont, ... The American Journal of Human Genetics 83 (3), 408-414, 2008 | 322 | 2008 |
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH L Gouya, H Puy, AM Robreau, M Bourgeois, J Lamoril, V Da Silva, ... Nature genetics 30 (1), 27-28, 2002 | 307 | 2002 |
Ferroptosis in liver diseases: an overview MM Capelletti, H Manceau, H Puy, K Peoc¢h International journal of molecular sciences 21 (14), 4908, 2020 | 265 | 2020 |
Erythropoietic protoporphyria M Lecha, H Puy, JC Deybach Orphanet journal of rare diseases 4, 1-10, 2009 | 259 | 2009 |
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria L Gouya, C Martin-Schmitt, AM Robreau, F Austerlitz, V Da Silva, P Brun, ... The American Journal of Human Genetics 78 (1), 2-14, 2006 | 202 | 2006 |
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria H Puy, JC Deybach, J Lamoril, AM Robreau, V Da Silva, L Gouya, ... The American Journal of Human Genetics 60 (6), 1373-1383, 1997 | 180 | 1997 |
Human hereditary hepatic porphyrias Y Nordmann, H Puy Clinica chimica acta 325 (1-2), 17-37, 2002 | 177 | 2002 |
ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis V Helias, C Saison, BA Ballif, T Peyrard, J Takahashi, H Takahashi, ... Nature genetics 44 (2), 170-173, 2012 | 176 | 2012 |
Porphyrias: a 2015 update Z Karim, S Lyoumi, G Nicolas, JC Deybach, L Gouya, H Puy Clinics and research in hepatology and gastroenterology 39 (4), 412-425, 2015 | 174 | 2015 |
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors C Andant, H Puy, C Bogard, J Faivre, JC Soulé, Y Nordmann, ... Journal of hepatology 32 (6), 933-939, 2000 | 173 | 2000 |
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation L Gouya, H Puy, J Lamoril, V Da Silva, B Grandchamp, Y Nordmann, ... Blood, The Journal of the American Society of Hematology 93 (6), 2105-2110, 1999 | 171 | 1999 |
Sequential regulation of ferroportin expression after erythrophagocytosis in murine macrophages: early mRNA induction by haem, followed by iron-dependent protein expression C Delaby, N Pilard, H Puy, F Canonne-Hergaux Biochemical Journal 411 (1), 123-131, 2008 | 165 | 2008 |
Iron regulatory proteins secure mitochondrial iron sufficiency and function B Galy, D Ferring-Appel, SW Sauer, S Kaden, S Lyoumi, H Puy, S Kölker, ... Cell metabolism 12 (2), 194-201, 2010 | 161 | 2010 |
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France Y Nordmann, H Puy, V Da Silva, S Simonin, AM Robreau, C Bonaiti, ... Journal of internal medicine 242 (3), 213-217, 1997 | 148 | 1997 |
Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior C Saison, V Helias, BA Ballif, T Peyrard, H Puy, T Miyazaki, S Perrot, ... Nature genetics 44 (2), 174-177, 2012 | 144 | 2012 |