- Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesisIrene Ceballos-Picot
School of Medicine, Paris Descartes University, 75006 Paris, France
Hum Mol Genet 18:2317-27. 2009..These results provide novel evidence that HPRT deficiency may affect dopaminergic neurons by influencing early developmental mechanisms...
- Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferaseIrene Ceballos-Picot
Department of Metabolic Biochemistry, Hopital Necker Enfants Malades, AP HP, 149 rue de Sevres, 75015 Paris, France School of Medicine, Paris Descartes University Sorbonne Paris Cité, 15 rue de l Ecole de Medecine, 75006 Paris, France Electronic address
Mol Genet Metab 110:268-74. 2013..Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation. This suggests that factors other than HGprt activity per se may influence the phenotype of Lesch-Nyhan patients. ..
- Misleading behavioural phenotype with adenylosuccinate lyase deficiencyCyril Gitiaux
Departement de Pediatrie, Hoôpital Necker Enfants Malades, AP HP, Universite Paris Descartes, Paris, France
Eur J Hum Genet 17:133-6. 2009..On the basis of this observation, although adenylosuccinate lyase deficiency is a rare disorder, this diagnosis should be considered in patients with mental retardation and a behavioural profile suggestive of Angelman syndrome...
- Speech disturbances in patients with dystonia or chorea due to neurometabolic disordersConstance Flamand-Rouvière
Service de Neurologie, CHU de Bicetre, AP HP, Le Kremlin Bicetre, France
Mov Disord 25:1605-11. 2010..These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dystonia due to neurometabolic disorders...
- Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiencyGuillaume Bollée
Department of Nephrology, Centre de Référence des Maladies Rénales Héréditaires, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 21:679-88. 2010..Early diagnosis is crucial for initiation of effective treatment with allopurinol and for prevention of renal complications...