A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this deficiency, there is an acceleration of the de novo p...
Furkejuvvon:
Váldodahkkit: | Paula Escudero-Ferruz (Dahkki), Neus Ontiveros (Dahkki), Claudia Cano-Estrada (Dahkki), Diane J. Sutcliffe (Dahkki), H. A. Jinnah (Dahkki), Rosa J. Torres (Dahkki), José M. López (Dahkki) |
---|---|
Materiálatiipa: | Girji |
Almmustuhtton: |
BMC,
2024-01-01T00:00:00Z.
|
Fáttát: | |
Liŋkkat: | Connect to this object online. |
Fáddágilkorat: |
Lasit fáddágilkoriid
Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!
|
Geahča maid
-
Lesch-Nyhan Syndrome
Dahkki: J Gordon Millichap
Almmustuhtton: (1988) -
Neurological Variants of Lesch-Nyhan Disease
Dahkki: J Gordon Millichap
Almmustuhtton: (2010) -
Action Dystonia in Lesch-Nyhan Disease
Dahkki: J Gordon Millichap
Almmustuhtton: (2006) -
Prenatal Diagnosis of Lesch-Nyhan Syndrome
Dahkki: J Gordon Millichap
Almmustuhtton: (1995) -
Malignant hyperthermia in Lesch-Nyhan disease
Dahkki: William L Nyhan, et al.
Almmustuhtton: (2019)