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Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

Journal of inherited metabolic disease, 2007-08, Vol.30 (4), p.585-592

2007

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Psychosine, a marker of Krabbe phenotype and treatment effect

Molecular genetics and metabolism, 2017-07, Vol.121 (3), p.271-278

2017

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Combined screening for lysosomal and peroxisomal disorders by Flow Injection Liquid Chromatography Mass Spectrometry (FIA-MS/MS) in Dried Blood Spots (DBS)

Journal of the neurological sciences, 2015-10, Vol.357, p.e212-e212

2015

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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.39-45

2008

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

Molecular genetics and metabolism, 2010-06, Vol.100 (2), p.136-142

2010

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A-219 A Multiplexed Targeted Assay for Gangliosides Using Liquid Chromatography-Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2023-09, Vol.69 (Supplement_1)

2023

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The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

Molecular genetics and metabolism, 2005-02, Vol.84 (2), p.137-143

2005

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Methylmalonic Acid Measured in Plasma and Urine by Stable-Isotope Dilution and Electrospray Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2000-11, Vol.46 (11), p.1804-1810

2000

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Thiopurine methyltransferase screening before azathioprine prescription: a physician survey

Journal of population therapeutics and clinical pharmacology, 2013, Vol.20 (1), p.e13-e17

2013

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Liver transplantation for glycogen storage disease types I, III, and IV

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S43-S048

1999

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Pediatric research, 2001, Vol.49 (1), p.18-23

2001

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Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene

Molecular genetics and metabolism, 2004-06, Vol.82 (2), p.112-120

2004

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Fatty acid oxidation disorders

Annual review of physiology, 2002-01, Vol.64 (1), p.477-502

2002

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Clinical biochemical genetics in the twenty-first century

Acta Paediatrica, 2004-04, Vol.93 (s445), p.22-26

2004

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Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation

Genetics in medicine, 2000-11, Vol.2 (6), p.338-344

2000

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Mice Heterozygous for a Defect in Mitochondrial Trifunctional Protein Develop Hepatic Steatosis and Insulin Resistance

Gastroenterology (New York, N.Y. 1943), 2005-05, Vol.128 (5), p.1381-1390

2005

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Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.453-456

2008

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Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Clinical chemistry (Baltimore, Md.), 2004-03, Vol.50 (3), p.621-625

2004

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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

Pediatric research, 1999-07, Vol.46 (1), p.45-49

1999

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Mass Spectrometry Methods for Metabolic and Health Assessment

The Journal of nutrition, 2001-05, Vol.131 (5), p.1615S-1620S

2001

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-08, Vol.89 (8), p.3687-3693

2004

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Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome : Impact of expanded newborn screening on their diagnosis and management

Pediatric research, 2005-05, Vol.57 (5), p.78-86

2005

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Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disorders

Journal of inherited metabolic disease, 2000-02, Vol.23 (1), p.27-44

2000

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A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

American journal of human genetics, 2004-12, Vol.75 (6), p.1136-1142

2004

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Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

Prenatal diagnosis, 2001-01, Vol.21 (1), p.52-54

2001

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Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

Psychosine, a marker of Krabbe phenotype and treatment effect

Combined screening for lysosomal and peroxisomal disorders by Flow Injection Liquid Chromatography Mass Spectrometry (FIA-MS/MS) in Dried Blood Spots (DBS)

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

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

A-219 A Multiplexed Targeted Assay for Gangliosides Using Liquid Chromatography-Tandem Mass Spectrometry

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I

Methylmalonic Acid Measured in Plasma and Urine by Stable-Isotope Dilution and Electrospray Tandem Mass Spectrometry

Thiopurine methyltransferase screening before azathioprine prescription: a physician survey

Liver transplantation for glycogen storage disease types I, III, and IV

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene

Fatty acid oxidation disorders

Clinical biochemical genetics in the twenty-first century

Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation

Mice Heterozygous for a Defect in Mitochondrial Trifunctional Protein Develop Hepatic Steatosis and Insulin Resistance

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis

Mass Spectrometry Methods for Metabolic and Health Assessment

Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia

Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome : Impact of expanded newborn screening on their diagnosis and management

Acylcarnitines in fibroblasts of patients with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency and other fatty acid oxidation disorders

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

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