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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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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

JAMA : the journal of the American Medical Association, 2003-11, Vol.290 (19), p.2564

2003

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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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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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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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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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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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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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Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

Molecular genetics and metabolism, 2005-09, Vol.86 (1), p.212-219

2005

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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

Journal of human genetics, 2009-06, Vol.54 (6), p.335-339

2009

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Neonatal blood carnitine concentrations: Normative data by electrospray tandem mass spectometry

Pediatric research, 2003-05, Vol.53 (5), p.823-829

2003

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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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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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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

The Journal of pediatrics, 1998-03, Vol.132 (3), p.519-523

1998

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A high throughput β-globin genotyping method by multiplexed melting temperature analysis

Molecular genetics and metabolism, 2004-03, Vol.81 (3), p.237-243

2004

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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

Molecular genetics and metabolism, 2003-02, Vol.78 (2), p.100-107

2003

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Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia

The Journal of molecular diagnostics : JMD, 2003-02, Vol.5 (1), p.42-47

2003

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DNA microarray technology for neonatal screening

Acta Paediatrica, 1999-12, Vol.88 (s432), p.61-64

1999

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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania : neonatal screening shows high incidence and unexpected mutation frequencies

Pediatric research, 1995-05, Vol.37 (5), p.675-678

1995

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Optimization of an automated DNA purification protocol for neonatal screening

Archives of pathology & laboratory medicine (1976), 1999-12, Vol.123 (12), p.1154-1160

1999

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Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults

Journal of medical screening, 2003, Vol.10 (1), p.5-10

2003

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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism

American journal of human genetics, 1993-09, Vol.53 (3), p.768-774

1993

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Immediately elevated postoperative serum branched-chain amino acids following effective GI decompression and enteral feeding

Nutrition (Burbank, Los Angeles County, Calif.), 1996-03, Vol.12 (3), p.159-162

1996

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Deletion of the ferrochelatase gene in a patient with protoporphyria

Human molecular genetics, 1994-09, Vol.3 (9), p.1695-1697

1994

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Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantation

Clinical transplantation, 1999-10, Vol.13 (5), p.395-399

1999

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

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

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

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

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

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

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

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

Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

Neonatal blood carnitine concentrations: Normative data by electrospray tandem mass spectometry

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

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

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

A high throughput β-globin genotyping method by multiplexed melting temperature analysis

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia

DNA microarray technology for neonatal screening

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania : neonatal screening shows high incidence and unexpected mutation frequencies

Optimization of an automated DNA purification protocol for neonatal screening

Assays for thyroid-stimulating hormone using dried blood spotted filter paper specimens to screen for hypothyroidism in older children and adults

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism

Immediately elevated postoperative serum branched-chain amino acids following effective GI decompression and enteral feeding

Deletion of the ferrochelatase gene in a patient with protoporphyria

Immunoreactive trypsinogen levels in pediatric patients with intestinal failure awaiting intestinal transplantation

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