Published in Clin Chem on January 01, 1995
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The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis (2006) 1.51
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Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem (1993) 1.41
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr (1986) 1.40
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The structure of the molybdenum cofactor. Characterization of di-(carboxamidomethyl)molybdopterin from sulfite oxidase and xanthine oxidase. J Biol Chem (1987) 1.36
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther (2006) 1.35
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Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun (1990) 1.27
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Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res (1999) 1.21
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Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem (2001) 1.19
Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays. Clin Chem (1999) 1.19
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet (1996) 1.17
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Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal Biochem (2000) 1.15
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Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch Dis Child (1983) 1.12
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet (1993) 1.10
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A mild autosomal recessive form of osteopetrosis. Am J Med Genet (1984) 1.04
Isotope-dilution assay for urinary methylmalonic acid in the diagnosis of vitamin B12 deficiency. A prospective clinical evaluation. Ann Intern Med (1987) 1.03
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Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J Pediatr (1988) 1.00
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Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics (1978) 0.99
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L-carnitine therapy in propionicacidaemia. Lancet (1982) 0.98
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Prenatal diagnosis of mitochondrial fatty acid oxidation defects. Prenat Diagn (1996) 0.96
Performance of the serum cobalamin assay for diagnosis of cobalamin deficiency. Am J Med Sci (1994) 0.95
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Hypoxia inhibits nitric oxide synthesis in isolated rabbit lung. Am J Physiol (1997) 0.95
Significance of bound glutarate in the diagnosis of glutaric aciduria type I. J Inherit Metab Dis (1992) 0.95
Endogenous catabolism is the major source of toxic metabolites in isovaleric acidemia. J Pediatr (1987) 0.94