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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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Vitamin D Status in Renal Transplant Recipients

American journal of transplantation, 2007-11, Vol.7 (11), p.2546-2552

2007

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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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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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Heparin-induced thrombocytopenia (HIT) and thrombosis in a haemodialysis-dependent patient with systemic vasculitis

Nephrology, dialysis, transplantation, 1998-12, Vol.13 (12), p.3226-3229

1998

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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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Methylmalonic aciduria in pregnancy: A case report

American journal of obstetrics and gynecology, 1995-03, Vol.172 (3), p.1057-1059

1995

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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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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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Automated analysis for free and short-chain acylcarnitine in plasma with a centrifugal analyzer

Clinical chemistry (Baltimore, Md.), 1992-11, Vol.38 (11), p.2215

1992

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Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism

Molecular genetics and metabolism, 1998-12, Vol.65 (4), p.264-271

1998

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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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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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Evolution of coronary artery calcification in patients with chronic kidney disease Stages 3 and 4, with and without diabetes

Nephrology, dialysis, transplantation, 2011-08, Vol.26 (8), p.2582-2589

2011

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Carnitine/Acylcarnitine Translocase Deficiency (Neonatal Phenotype): Successful Prenatal and Postmortem Diagnosis Associated with a Novel Mutation in a Single Family

Molecular genetics and metabolism, 2001-05, Vol.73 (1), p.64-70

2001

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Detection of gene defects in branched-chain amino acid metabolism by tandem mass spectrometry of carnitine esters produced by cultured fibroblasts

Methods in Enzymology, 2000, Vol.324, p.424-431

2000

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Detection of coronary and peripheral artery calcification in patients with chronic kidney disease stages 3 and 4, with and without diabetes

Nephrology, dialysis, transplantation, 2007-11, Vol.22 (11), p.3208-3213

2007

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Methylmalonic Semialdehyde Dehydrogenase Deficiency: Psychomotor Delay and Methylmalonic Aciduria without Metabolic Decompensation

Molecular genetics and metabolism, 1998-09, Vol.65 (1), p.35-43

1998

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Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated α-fetoprotein and cystic renal changes

Prenatal diagnosis, 2001-10, Vol.21 (10), p.856-859

2001

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Comparison of intact and 'whole molecule' parathyroid hormone assays in patients with histologically confirmed post-renal transplant osteodystrophy

Annals of clinical biochemistry, 2002-05, Vol.39 (Pt 3), p.314

2002

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Identification of Two Novel Mutations in the Hypoglycemic Phenotype of Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Biochemical and biophysical research communications, 1999-10, Vol.264 (2), p.483-487

1999

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Isolation and biochemical characterization of intertypic recombinants of foot-and-mouth disease virus

Virus research, 1985-07, Vol.3 (1), p.87-100

1985

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Increasing myocardial oxygen demand during prolonged halothane anesthesia in dogs

Anesthesia and analgesia, 1983-09, Vol.62 (9), p.788-792

1983

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Reply

Nephrology, dialysis, transplantation, 2007-08, Vol.23 (1), p.409-410

2007

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