|
1
|
Mass screening for Wilson's disease by measuring urinary holoceruloplasmin.
|
J Pediatr
|
2002
|
1.47
|
|
2
|
Newborn screening and diagnosis of mucopolysaccharidoses.
|
Mol Genet Metab
|
2013
|
1.13
|
|
3
|
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.
|
J Inherit Metab Dis
|
2010
|
1.09
|
|
4
|
Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine.
|
Biomark Insights
|
2011
|
0.96
|
|
5
|
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry.
|
Mol Genet Metab
|
2009
|
0.95
|
|
6
|
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
|
J Inherit Metab Dis
|
2010
|
0.93
|
|
7
|
Elevated free thyroxine levels detected by a neonatal screening system.
|
Pediatr Res
|
2009
|
0.88
|
|
8
|
Newborn screening for Pompe disease in Japan.
|
Mol Genet Metab
|
2011
|
0.87
|
|
9
|
Neonatal screening for congenital adrenal hyperplasia in Japan.
|
Pediatr Endocrinol Rev
|
2012
|
0.83
|
|
10
|
Simultaneous determination of 17alpha-hydroxypregnenolone and 17alpha-hydroxyprogesterone in dried blood spots from low birth weight infants using LC-MS/MS.
|
J Pharm Biomed Anal
|
2008
|
0.81
|
|
11
|
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
|
Eur J Pediatr
|
2002
|
0.80
|
|
12
|
Allele specific PCR with microfluorometry: application to the detection of del F508 mutation in cystic fibrosis.
|
Clin Chim Acta
|
2002
|
0.75
|