Irène Ceballos-Picot

机构：Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris

发表论文 111 篇 · 总被引 4243 次 · h-index 34

代表论文

• Attenuated variants of Lesch-Nyhan disease (2010 · Brain · 被引 179)
• MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy (2013 · Brain · 被引 157)
• Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency (2010 · Journal of the American Society of Nephrology · 被引 138)
• Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder (2013 · Brain · 被引 134)
• Adenine Phosphoribosyltransferase Deficiency (2012 · Clinical Journal of the American Society of Nephrology · 被引 133)
• Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis (2009 · Human Molecular Genetics · 被引 102)