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Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

Neurology, 2008-07, Vol.71 (4), p.260

2008

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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

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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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism

Pediatric research, 2000-06, Vol.47 (6), p.830-833

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

1995

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Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

The Journal of pediatrics, 1994-03, Vol.124 (3), p.409-415

1994

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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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Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

Human molecular genetics, 1996-04, Vol.5 (4), p.461-472

1996

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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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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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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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Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

Pediatric research, 1984-12, Vol.18 (12), p.1325-1328

1984

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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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Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

Pediatrics (Evanston), 1991-12, Vol.88 (6), p.1194

1991

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Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy

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

2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism

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

Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children

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

Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

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

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

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

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

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

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