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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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Maternal screening for hypothyroidism and thyroiditis using filter paper specimens

Journal of women's health (Larchmont, N.Y. 2002), 2013-11, Vol.22 (11), p.991-996

2013

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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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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

Journal of inherited metabolic disease, 2009-02, Vol.32 (1), p.10-21

2009

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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 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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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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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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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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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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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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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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DNA microarray technology for neonatal screening

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

1999

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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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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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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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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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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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New technologies in newborn screening

The Yale journal of biology & medicine, 1991-01, Vol.64 (1), p.21-24

Naylor, E W

1991

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Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions

Clinica chimica acta, 1988-06, Vol.174 (3), p.271-282

1988

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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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Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening

Pediatrics (Evanston), 1987-03, Vol.79 (3), p.374-378

1987

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Simplified procedure for producing Bacillus subtilis spores for the Guthrie phenylketonuria and other microbiological screening tests

Journal of Clinical Microbiology, 1985-05, Vol.21 (5), p.826-829

1985

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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

Maternal screening for hypothyroidism and thyroiditis using filter paper specimens

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

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

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

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

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

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

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

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

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

DNA microarray technology for neonatal screening

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

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

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

Deletion of the ferrochelatase gene in a patient with protoporphyria

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

New technologies in newborn screening

Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions

Optimization of an automated DNA purification protocol for neonatal screening

Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening

Simplified procedure for producing Bacillus subtilis spores for the Guthrie phenylketonuria and other microbiological screening tests

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