Lesch-Nyhan syndrome with HPRT1 gene mutation: a report of two cases with a literature review

Slični predmeti

• Lesch-Nyhan syndrome with HPRT1 gene mutation: a report of two cases with a literature review
  od: Yuan Yan, i dr.
  Izdano: (2024-11-01)
• Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review
  od: Jeng-Dau Tsai, i dr.
  Izdano: (2014-08-01)
• Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
  od: Laura E. Laróvere, i dr.
  Izdano: (2021-03-01)
• Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients
  od: Lu Li, i dr.
  Izdano: (2022-04-01)
• 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
  od: Albandary AlBakheet, i dr.
  Izdano: (2023-01-01)