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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

Pediatric research, 2000, Vol.47 (1), p.43-45

2000

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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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Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts

Molecular genetics and metabolism, 2006, Vol.87 (1), p.40-47

2006

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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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Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.321-324

1990

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Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

Journal of inherited metabolic disease, 2003-01, Vol.26 (7), p.659-670

2003

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Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

European journal of pediatrics, 2000-01, Vol.159 (1-2), p.82-85

2000

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Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency

The Journal of pediatrics, 2000-03, Vol.136 (3), p.397-399

2000

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Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

Analytical biochemistry, 1989-08, Vol.180 (2), p.331-339

1989

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Short‐chain acyl‐CoA dehydrogenase deficiency in a 16‐year‐old girl with severe muscle wasting and scoliosis

Journal of inherited metabolic disease, 1997-07, Vol.20 (3), p.427-431

1997

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Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

Journal of lipid research, 1998-01, Vol.39 (1), p.66-74

1998

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Hypoketotic Hypoglycemic Coma in a 21-Month-Old Child

Annals of emergency medicine, 1999-09, Vol.34 (3), p.394-398

1999

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The mutational spectrum in very long‐chain acyl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 1996-01, Vol.19 (2), p.169-172

1996

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Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis

Journal of inherited metabolic disease, 1998-10, Vol.21 (7), p.753-760

1998

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2,4-dienoyl-coenzyme A reductase deficiency : a possible new disorder of fatty acid oxidation

The Journal of clinical investigation, 1990-05, Vol.85 (5), p.1703-1707

1990

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Recent Developments in the Investigation of Inherited Metabolic Disorders Using Cultured Human Cells

Molecular Genetics and Metabolism, 1999-10, Vol.68 (2), p.243-257

1999

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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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The Genes for the α and β Subunits of the Mitochondrial Trifunctional Protein Are Both Located in the Same Region of Human Chromosome 2p23

Genomics (San Diego, Calif.), 1996-10, Vol.37 (1), p.141-143

1996

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Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype

Clinica chimica acta, 2001-10, Vol.312 (1), p.55-67

2001

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Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

The Journal of pediatrics, 1986, Vol.108 (1), p.13-18

1986

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Identification of 3-methylglutarylcarnitine: a new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

The Journal of clinical investigation, 1986-04, Vol.77 (4), p.1391-1394

1986

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Evidence for a Short-Chain Carnitine–Acylcarnitine Translocase in Mitochondria Specifically Related to the Metabolism of Branched-Chain Amino Acids

Molecular genetics and metabolism, 2000-01, Vol.69 (1), p.69-75

2000

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Evidence for Intermediate Channeling in Mitochondrial β-Oxidation (∗)

The Journal of biological chemistry, 1995-01, Vol.270 (2), p.530-535

1995

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Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult

Neurology, 1990-11, Vol.40 (11), p.1779-1779

1990

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Familial infantile apnea and immature beta oxidation

Pediatric pulmonology, 1995-09, Vol.20 (3), p.167-171

1995

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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy

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

Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts

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

Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/ mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

Short‐chain acyl‐CoA dehydrogenase deficiency in a 16‐year‐old girl with severe muscle wasting and scoliosis

Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts

Hypoketotic Hypoglycemic Coma in a 21-Month-Old Child

The mutational spectrum in very long‐chain acyl‐CoA dehydrogenase deficiency

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis

2,4-dienoyl-coenzyme A reductase deficiency : a possible new disorder of fatty acid oxidation

Recent Developments in the Investigation of Inherited Metabolic Disorders Using Cultured Human Cells

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

The Genes for the α and β Subunits of the Mitochondrial Trifunctional Protein Are Both Located in the Same Region of Human Chromosome 2p23

Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

Identification of 3-methylglutarylcarnitine: a new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

Evidence for a Short-Chain Carnitine–Acylcarnitine Translocase in Mitochondria Specifically Related to the Metabolism of Branched-Chain Amino Acids

Evidence for Intermediate Channeling in Mitochondrial β-Oxidation (∗)

Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult

Familial infantile apnea and immature beta oxidation

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