共 113 条
[1]
Deodato F(2004)Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia Acta Paediatr Suppl 93 18-21
[2]
Boenzi S(1988)Nuclear magnetic resonance spectroscopy in the study of inborn errors of metabolism Clin Sci (Lond) 74 1-10
[3]
Rizzo C(1986)Possibilities of selective screening for inborn errors of metabolism using high-resolution Eur J Pediatr 145 260-266
[4]
Abeni D(2008)H-FT-NMR spectrometry NMR Biomed 21 138-147
[5]
Caviglia S(1997)NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism J Inherit Metab Dis 20 345-350
[6]
Picca S(2003)H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism Ann Clin Biochem 40 16-24
[7]
Bartuli A(1992)Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism Clin Chim Acta 209 47-60
[8]
Dionisi-Vici C(2002)Investigation of urea cycle enzyme disorders by Clin Chem 48 357-359
[9]
Iles RA(2007)H-NMR spectroscopy Anal Chem 79 1181-1186
[10]
Chalmers RA(2007)Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease J Inherit Metab Dis 30 507-514