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New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • Contributors:
      Centre de biophysique moléculaire (CBM); Université d'Orléans (UO)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS); Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte CHU Necker (MaMEA Necker); Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Service d'informatique médicale et biostatistiques CHU Necker; Microenvironnement cellulaire et pathologie (MILPAT); Université de Caen Normandie (UNICAEN); Normandie Université (NU)-Normandie Université (NU); Hôpital Lariboisière-Fernand-Widal APHP; Institut de biochimie et génétique cellulaires (IBGC); Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS)
    • بيانات النشر:
      HAL CCSD
      BioMed Central
    • الموضوع:
      2015
    • Collection:
      Normandie Université: HAL
    • نبذة مختصرة :
      International audience ; Background: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The residual HGprt activity correlates with the various phenotypes of Lesch-Nyhan (LN) patients and in particular with the different degree of neurobehavioral disturbances. The prevalence of this disease is considered to be underestimated due to large heterogeneity of its clinical symptoms and the difficulty of diagnosing of the less severe forms of the disease. We therefore searched for metabolic changes that would facilitate an early diagnosis and give potential clues on the disease pathogenesis and potential therapeutic approaches.
    • Relation:
      hal-02354938; https://hal.science/hal-02354938; https://hal.science/hal-02354938/document; https://hal.science/hal-02354938/file/Lesch-nyhan%20OJRD.pdf
    • الرقم المعرف:
      10.1186/s13023-014-0219-0
    • الدخول الالكتروني :
      https://hal.science/hal-02354938
      https://hal.science/hal-02354938/document
      https://hal.science/hal-02354938/file/Lesch-nyhan%20OJRD.pdf
      https://doi.org/10.1186/s13023-014-0219-0
    • Rights:
      http://creativecommons.org/licenses/by/ ; info:eu-repo/semantics/OpenAccess
    • الرقم المعرف:
      edsbas.1E3C3752