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Julie Cahu
Julie Cahu
Necker-Enfants Malades Hospital
Genetics
Lesch–Nyhan syndrome
Hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine Phosphoribosyltransferase
Biology
3
Papers
38
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New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients
2015
Orphanet Journal of Rare Diseases
Irene Ceballos Picot
Aurélia Le Dantec
Anais Brassier
Jean-Philippe Jais
Morgan Ledroit
Julie Cahu
Hang-Korng Ea
Bertrand Daignan-Fornier
Benoît Pinson
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Citations (20)
Transcriptomic Approach to Lesch-Nyhan Disease
2014
Nucleosides, Nucleotides & Nucleic Acids
Luce Dauphinot
Lionel Mockel
Julie Cahu
H. A. Jinnah
Morgan Ledroit
Marie-Claude Potier
Irene Ceballos Picot
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Citations (8)
Phenotypic Variation Among Seven Members of One Family with Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase
2013
Molecular Genetics and Metabolism
Irene Ceballos Picot
Franck Augé
Rong Fu
Anne Olivier-Bandini
Julie Cahu
Brigitte Chabrol
Bernard Aral
Bérengère de Martinville
Jean-Paul Lecain
H. A. Jinnah
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Citations (10)
1