Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency

(2010) J. M. Khalid et al.   CLINICAL CHEMISTRY

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

(2010) C. T. Turgeon et al.   CLINICAL CHEMISTRY

Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry

(2010) Silvia Tortorelli et al.   JOURNAL OF PEDIATRICS

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

(2010) Can Ficicioglu et al.   JOURNAL OF PEDIATRICS

Improving newborn screening laboratory test ordering and result reporting using health information exchange

(2010) Stephen M Downs et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

(2010) Sabrina Forni et al.   MOLECULAR GENETICS AND METABOLISM

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5years of ACADM sequencing

(2010) Emily H. Smith et al.   MOLECULAR GENETICS AND METABOLISM

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

(2010) Johan L K Van Hove et al.   PEDIATRIC RESEARCH

Evidence for an Association Between Infant Mortality and a Carnitine Palmitoyltransferase 1A Genetic Variant

(2010) B. D. Gessner et al.   PEDIATRICS

Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters

(2009) Donald H. Chace et al.   CLINICA CHIMICA ACTA

Acylcarnitine profile analysis

(2009) Piero Rinaldo et al.   GENETICS IN MEDICINE

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

(2009) Cheryl R. Greenberg et al.   MOLECULAR GENETICS AND METABOLISM

Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms

(2009) R.L. Puckett et al.   MOLECULAR GENETICS AND METABOLISM

A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency

(2009) Flemming Skovby et al.   MOLECULAR GENETICS AND METABOLISM

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

(2009) Giancarlo la Marca et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

(2008) D. Oglesbee et al.   CLINICAL CHEMISTRY

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

(2008) C. Turgeon et al.   CLINICAL CHEMISTRY

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS

Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination

(2008) M. Lindner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Causes of and diagnostic approach to methylmalonic acidurias

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

(2008) Giancarlo la Marca et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY