Results 111 to 120 of about 5,948 (186)

Regulating Human Gene Therapy [PDF]

, 1985
Scientific developments have moved the public debate on genetic engineering to the issue of human gene therapy. Because so many important societal values must be weighed in deciding which, if any, of the first protocols for human gene therapy should be ...
Areen, Judith C.
core   +1 more source

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome. [PDF]

Front Genet, 2022
AlBakheet A, AlQudairy H, Alkhalifah J, Almoaily S, Kaya N, Rahbeeni Z.   +5 more
europepmc   +1 more source

Purine metabolism in cultured endothelial cells [PDF]

, 1980
Gerbes, Alexander L., Gerlach, E., Nees, S., Sperling, Oded, Willershausen, B.   +4 more
core   +1 more source

Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective. [PDF]

Dev Med Child Neurol, 2021
Visser JE, Cotton AC, Schretlen DJ, Bloch J, Tedroff K, Schechtmann G, Radu Djurfeldt D, Gonzalez V, Cif L, Jinnah HA.   +9 more
europepmc   +1 more source

Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case. [PDF]

J Neurosurg Case Lessons, 2021
Satow T, Ogawa M, Komuro T.
europepmc   +1 more source

Experimental functional analysis of aggression in children with Angelman syndrome [PDF]

, 2009
Allen, D, Burrow, C, Horsler, K, Oliver, C, Shaw, R, Strachan, R   +5 more
core   +1 more source

Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients. [PDF]

Cell Mol Neurobiol
Javed S, Braconi D, Nadwa H, Paffetti A, Jacomelli G, Micheli V, Marzocchi B, Santucci A, Bernardini G.   +8 more
europepmc   +1 more source

Umbilical Cord Blood Transplantation in Lesch-Nyhan Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Weng TF, Li JP, Tin CH, Wu KH.
europepmc   +1 more source

Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome. [PDF]

J Endourol Case Rep, 2020
Meagher MF, Bechis SK.
europepmc   +1 more source

One-Carbon Metabolism and Midbrain Dopaminergic Cells in Lesch-Nyhan Disease. [PDF]

Mol Syndromol
Alsuwaidi S, Ernst C.
europepmc   +1 more source