Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem (2008) 2.48

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). Anal Chem (2010) 1.29

Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases. Anal Chem (2011) 1.17

How close is the bench to the bedside? Metabolic profiling in cancer research. Genome Med (2009) 0.99

Nonpharmacological, blood conservation techniques for preventing neonatal anemia--effective and promising strategies for reducing transfusion. Semin Perinatol (2012) 0.89

Multiplexed quantitation of endogenous proteins in dried blood spots by multiple reaction monitoring-mass spectrometry. Mol Cell Proteomics (2012) 0.87

Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. J Community Genet (2012) 0.87

Recent advances in newborn screening. J Inherit Metab Dis (2007) 0.86

Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine. J Inherit Metab Dis (2010) 0.77

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet (2003) 1.94

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol (2010) 1.81

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol (2012) 1.70

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord (2009) 1.31

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol (2005) 1.31

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis. Am J Med Genet A (2006) 1.03

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. Am J Med Genet (2002) 0.89

Coenzyme Q10 levels in Prader-Willi syndrome: comparison with obese and non-obese subjects. Am J Med Genet A (2003) 0.88

Fryns syndrome: report of eight new cases. Genet Med (2005) 0.78

14q32 deletion syndrome: a clinical report. Clin Dysmorphol (2012) 0.75