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Mass Spectrometry in the Clinical Laboratory

Chemical reviews, 2001-02, Vol.101 (2), p.445-478

Chace, Donald H

2001

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Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death

Clinical chemistry (Baltimore, Md.), 2001-07, Vol.47 (7), p.1166-1182

2001

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Impact of l-carnitine supplementation on metabolic profiles in premature infants

Journal of perinatology, 2017-05, Vol.37 (5), p.566-571

2017

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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 1997-11, Vol.43 (11), p.2106-2113

1997

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THE APPLICATION OF TANDEM MASS SPECTROMETRY TO NEONATAL SCREENING FOR INHERITED DISORDERS OF INTERMEDIARY METABOLISM

Annual review of genomics and human genetics, 2002-01, Vol.3 (1), p.17-45

2002

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Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours

Clinical chemistry (Baltimore, Md.), 1998-12, Vol.44 (12), p.2405-2409

1998

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Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 1993-01, Vol.39 (1), p.66-71

1993

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Recoveries of phenylalanine from two sets of dried-blood-spot reference materials : Prediction from hematocrit, spot volume, and paper matrix

Clinical chemistry (Baltimore, Md.), 2000, Vol.46 (1), p.126-128

2000

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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 1995-01, Vol.41 (1), p.62-68

1995

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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

Clinical chemistry (Baltimore, Md.), 2001-11, Vol.47 (11), p.2040-2044

2001

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Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 1996-03, Vol.42 (3), p.349-355

1996

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Validation of Accuracy-based Amino Acid Reference Materials in Dried-Blood Spots by Tandem Mass Spectrometry for Newborn Screening Assays

Clinical chemistry (Baltimore, Md.), 1999-08, Vol.45 (8), p.1269-1277

1999

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Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

Pediatric cardiology, 2005-11, Vol.26 (6), p.881-883

2005

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Demographic and nutritional factors associated with prolonged cholestatic jaundice in the premature infant

Journal of Perinatology, 2008-02, Vol.28 (2), p.129-135

2008

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Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium

Acta Paediatrica, 1999-12, Vol.88 (s432), p.45-47

1999

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Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

American journal of human genetics, 2001-06, Vol.68 (6), p.1408-1418

2001

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Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

Journal of child neurology, 1999-11, Vol.14 (1_suppl), p.S4-S8

1999

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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : diagnosis by acylcarnitine analysis in blood

American journal of human genetics, 1993-05, Vol.52 (5), p.958-966

1993

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The influence of amino-acid supplementation, gestational age and time on thyroxine levels in premature neonates

Journal of Perinatology, 2008-04, Vol.28 (4), p.270-274

2008

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Gestational age and age at sampling influence metabolic profiles in premature infants

Pediatrics (Evanston), 2014-07, Vol.134 (1), p.e37-e46

2014

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Errors caused by the use of D, L-octanoylcarnitine for blood-spot calibrators

Clinical chemistry (Baltimore, Md.), 2001-04, Vol.47 (4), p.758-760

2001

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Mass spectrometry-based diagnostics: the upcoming revolution in disease detection has already arrived

Clinical chemistry (Baltimore, Md.), 2003-07, Vol.49 (7), p.1227-1229

Chace, Donald H

2003

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Escherichia coli produces linoleic acid during late stationary phase

Journal of Bacteriology, 1993-09, Vol.175 (17), p.5324-5328

1993

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Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Clinical chemistry (Baltimore, Md.), 2003-11, Vol.49 (11), p.1797-1817

2003

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Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia

Pediatric research, 1994, Vol.35 (1), p.96-101

1994

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Mass Spectrometry in the Clinical Laboratory

Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death

Impact of l-carnitine supplementation on metabolic profiles in premature infants

Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

THE APPLICATION OF TANDEM MASS SPECTROMETRY TO NEONATAL SCREENING FOR INHERITED DISORDERS OF INTERMEDIARY METABOLISM

Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

Recoveries of phenylalanine from two sets of dried-blood-spot reference materials : Prediction from hematocrit, spot volume, and paper matrix

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry

Validation of Accuracy-based Amino Acid Reference Materials in Dried-Blood Spots by Tandem Mass Spectrometry for Newborn Screening Assays

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

Demographic and nutritional factors associated with prolonged cholestatic jaundice in the premature infant

Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : diagnosis by acylcarnitine analysis in blood

The influence of amino-acid supplementation, gestational age and time on thyroxine levels in premature neonates

Gestational age and age at sampling influence metabolic profiles in premature infants

Errors caused by the use of D, L-octanoylcarnitine for blood-spot calibrators

Mass spectrometry-based diagnostics: the upcoming revolution in disease detection has already arrived

Escherichia coli produces linoleic acid during late stationary phase

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia

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