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

Lignende værker

• Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
  af: PATRICK O'NEILL, et al.
  Udgivet: (1999-12-01)
• Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review
  af: Jeng-Dau Tsai, et al.
  Udgivet: (2014-08-01)
• Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients
  af: Laura E. Laróvere, et al.
  Udgivet: (2021-03-01)
• Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients
  af: Lu Li, et al.
  Udgivet: (2022-04-01)
• Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
  af: Hung-Hsiang Fang, et al.
  Udgivet: (2024-12-01)