Associated Papers
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R et al.
Brain : a Journal of Neurology, 2014
Nephrolithiasis related to inborn metabolic diseases.
Cochat P et al.
Pediatric Nephrology (berlin, Germany), 2010
Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
Wong H et al.
Pediatric Nephrology (berlin, Germany), 2008
A non-active site mutation in human hypoxanthine guanine phosphoribosyltransferase expands substrate specificity.
Raman J et al.
Archives of Biochemistry and Biophysics, 2004
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