Results
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Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. [electronic resource] by
- Carichon, Mickael
- Pallet, Nicolas
- Schmitt, Caroline
- Lefebvre, Thibaud
- Gouya, Laurent
- Talbi, Neila
- Deybach, Jean Charles
- Beaune, Philippe
- Vasos, Paul
- Puy, Hervé
- Bertho, Gildas
Producer: 20140826
In:
Analytical chemistry vol. 86
Availability: No items available.
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A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. [electronic resource] by
- Tchernitchko, Dimitri
- Tavernier, Quentin
- Lamoril, Jérôme
- Schmitt, Caroline
- Talbi, Neila
- Lyoumi, Said
- Robreau, Anne-Marie
- Karim, Zoubida
- Gouya, Laurent
- Thervet, Eric
- Karras, Alexandre
- Puy, Hervé
- Pallet, Nicolas
Producer: 20170628
In:
Journal of the American Society of Nephrology : JASN vol. 28
Availability: No items available.
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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. [electronic resource] by
- Ducamp, Sarah
- Kannengiesser, Caroline
- Touati, Mohamed
- Garçon, Loïc
- Guerci-Bresler, Agnès
- Guichard, Jean François
- Vermylen, Christiane
- Dochir, Joaquim
- Poirel, Hélène A
- Fouyssac, Fanny
- Mansuy, Ludovic
- Leroux, Geneviève
- Tertian, Gérard
- Girot, Robert
- Heimpel, Hermann
- Matthes, Thomas
- Talbi, Neila
- Deybach, Jean-Charles
- Beaumont, Carole
- Puy, Hervé
- Grandchamp, Bernard
Producer: 20110919
In:
Human mutation vol. 32
Availability: No items available.
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EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. [electronic resource] by
- Gouya, Laurent
- Ventura, Paolo
- Balwani, Manisha
- Bissell, D Montgomery
- Rees, David C
- Stölzel, Ulrich
- Phillips, John D
- Kauppinen, Raili
- Langendonk, Janneke G
- Desnick, Robert J
- Deybach, Jean-Charles
- Bonkovsky, Herbert L
- Parker, Charles
- Naik, Hetanshi
- Badminton, Michael
- Stein, Penelope E
- Minder, Elisabeth
- Windyga, Jerzy
- Bruha, Radan
- Cappellini, Maria Domenica
- Sardh, Eliane
- Harper, Pauline
- Sandberg, Sverre
- Aarsand, Aasne K
- Andersen, Janice
- Alegre, Félix
- Ivanova, Aneta
- Talbi, Neila
- Chan, Amy
- Querbes, William
- Ko, John
- Penz, Craig
- Liu, Shangbin
- Lin, Tim
- Simon, Amy
- Anderson, Karl E
Producer: 20210420
In:
Hepatology (Baltimore, Md.) vol. 71
Availability: No items available.
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