Ngā hua rapu kaituhi :: APM

1

Adenine Phosphoribosyltransferase Deficiency mā Guillaume Bollée, Jérôme Harambat, A Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot

I whakaputaina 2012

Whiwhi kuputuhi katoa
Revisão

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2

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis mā Irène Ceballos-Picot, Lionel Mockel, Marie‐Claude Potier, Luce Dauphinot, Thomas L. Shirley, R. Torero-Ibad, Julia Fuchs, H. A. Jinnah

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

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3

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency mā Guillaume Bollée, Cécile Dollinger, Lucile Boutaud, Delphine Guillemot, A Bensman, Jérôme Harambat, P. Deteix, Michel Daudon, Bertrand Knebelmann, Irène Ceballos-Picot

I whakaputaina 2010

Whiwhi kuputuhi katoa
Artigo

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4

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients mā Irène Ceballos-Picot, Aurélia Le Dantec, Anaïs Brassier, Jean‐Philippe Jaïs, Morgan Ledroit, Julie Cahu, Hang‐Korng Ea, Bertrand Daignan‐Fornier, Benoı̂t Pinson

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy mā Diego Martinelli, Lorena Travaglini, Christian A. Drouin, Irène Ceballos-Picot, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo, Stefania Petrini, Pascale de Lonlay, Maya El Hachem, Laurence Hubert, Alexandre Montpetit, Giuliano Torre, Carlo Dionisi‐Vici

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder mā Rong Fu, Irène Ceballos-Picot, Rosa J. Torres, Laura E. Laróvere, Yasukazu Yamada, Khue Vu Nguyen, Madhuri Hegde, Jasper E. Visser, David J. Schretlen, William L. Nyhan, Juan Puig, Patrick J. OʼNeill, Hyder A. Jinnah

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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7

Recurrent 2,8-Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure mā Mohamad Zaidan, Runólfur Pálsson, Élodie Merieau, Émilie Cornec-Le Gall, A. Garstka, Umberto Maggiore, P. Deteix, Michèle Battista, Ève-Reine Gagné, Irène Ceballos-Picot, J.P. Duong Van Huyen, Christophe Legendre, Michel Daudon, Viðar Ö. Eðvarðsson, Bertrand Knebelmann

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

Attenuated variants of Lesch-Nyhan disease mā H. A. Jinnah, Irène Ceballos-Picot, Rosa J. Torres, Jasper E. Visser, David J. Schretlen, Ana Verdú, Laura E. Laróvere, Chung‐Jen Chen, Antonio Cossu, Chien‐Hui Wu, Radhika Sampat, Shun‐Jen Chang, Raquel Dodelson de Kremer, William L. Nyhan, James C. Harris, Stephen G. Reich, Juan Puig

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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9

Delineation of the motor disorder of Lesch–Nyhan disease mā Hyder A. Jinnah, Jasper E. Visser, James C. Harris, Alfonso Verdú, Laura E. Laróvere, Irène Ceballos-Picot, Pedro Gonzalez‐Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David J. Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William L. Nyhan, Raquel de Kremer, Gary E. Eddey, Juan Puig, Stephen G. Reich

I whakaputaina 2006

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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