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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2037-2044

2007

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Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Neuromuscular disorders : NMD, 2007-10, Vol.17 (9), p.698-706

2007

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Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit

Diabetes (New York, N.Y.), 1996-02, Vol.45 (2), p.113

1996

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Tandem Mass Spectrometric Assay for the Determination of Carnitine Palmitoyltransferase II Activity in Muscle Tissue

Analytical biochemistry, 2002-03, Vol.302 (2), p.246-251

2002

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Lipopolysaccharide and ceramide docking to CD14 provokes ligand‐specific receptor clustering in rafts

European journal of immunology, 2001-11, Vol.31 (11), p.3153-3164

2001

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Adult form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

European journal of pediatrics, 2001-09, Vol.160 (9), p.548-551

2001

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Acute valproate poisoning : Pharmacokinetics, alteration in fatty acid metabolism, and changes during therapy

Journal of clinical psychopharmacology, 2005-08, Vol.25 (4), p.376-380

2005

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Investigation of citrullinemia type I variants by in vitro expression studies

Human mutation, 2008-10, Vol.29 (10), p.1222-1227

2008

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Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

Journal of neurology, 2008-05, Vol.255 (5), p.643-648

2008

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Treatment of glycogenosis type V with ketogenic diet

Annals of neurology, 2005-08, Vol.58 (2), p.341-341

2005

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Genetic and structural characterization of the human mitochondrial inner membrane translocase 1 1Edited by J. Karn

Journal of molecular biology, 1999-05, Vol.289 (1), p.69-82

1999

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Genetic and structural characterization of the human mitochondrial inner membrane translocase

Journal of molecular biology, 1999-05, Vol.289 (1), p.69-82

1999

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Monitoring of ketogenic diet for carnitine metabolites by subcutaneous microdialysis

Pediatric research, 2006-07, Vol.60 (1), p.93-96

2006

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Cystic renal dysplasia as a leading sign of inherited metabolic disease

Pediatric nephrology (Berlin, West), 2007-12, Vol.22 (12), p.2119-2124

2007

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Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry

Clinical chemistry (Baltimore, Md.), 2000, Vol.46 (1), p.122-123

2000

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Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Biochemical and biophysical research communications, 1999-08, Vol.261 (2), p.484-487

1999

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Clinical validation of a new blood collection tube for the accuracy of total homocysteine measurement by different methods

Clinical biochemistry, 2007-06, Vol.40 (9), p.739-743

2007

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Uptake, clearance and metabolism of TEGDMA in guinea pigs

Dental materials, 2002-12, Vol.18 (8), p.581-589

2002

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Spermine Deficiency in Gy Mice Caused by Deletion of the Spermine Synthase Gene

Human molecular genetics, 1998-03, Vol.7 (3), p.541-547

1998

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Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations

Archives of neurology (Chicago), 2006-08, Vol.63 (8), p.1129

2006

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Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry

Clinical chemistry and laboratory medicine, 1999-09, Vol.37 (9), p.855-876

1999

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Treatment of glycogenosis type V with ketogenic diet

Annals of neurology, 2005, Vol.58 (2), p.341-341

2005

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Production and Characterization of Antibodies against Carboxymethyllysine-modified Proteins

Maillard Reaction in Chemistry, Food, and Health, 1998, p.392-396

1998

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Immunolocalization of the Glycoxidation Product Nɛ-(carboxymethyl) Lysine in Normal and Inflamed Human Intestinal Tissues

The Maillard Reaction in Foods and Medicine, 1998, p.316-321

1998

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit

Tandem Mass Spectrometric Assay for the Determination of Carnitine Palmitoyltransferase II Activity in Muscle Tissue

Lipopolysaccharide and ceramide docking to CD14 provokes ligand‐specific receptor clustering in rafts

Adult form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

Acute valproate poisoning : Pharmacokinetics, alteration in fatty acid metabolism, and changes during therapy

Investigation of citrullinemia type I variants by in vitro expression studies

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

Treatment of glycogenosis type V with ketogenic diet

Genetic and structural characterization of the human mitochondrial inner membrane translocase 1 1Edited by J. Karn

Genetic and structural characterization of the human mitochondrial inner membrane translocase

Monitoring of ketogenic diet for carnitine metabolites by subcutaneous microdialysis

Cystic renal dysplasia as a leading sign of inherited metabolic disease

Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry

Carnitine Transporter OCTN2 Mutations in Systemic Primary Carnitine Deficiency: A Novel Arg169Gln Mutation and a Recurrent Arg282ter Mutation Associated with an Unconventional Splicing Abnormality

Clinical validation of a new blood collection tube for the accuracy of total homocysteine measurement by different methods

Uptake, clearance and metabolism of TEGDMA in guinea pigs

Spermine Deficiency in Gy Mice Caused by Deletion of the Spermine Synthase Gene

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations

Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry

Treatment of glycogenosis type V with ketogenic diet

Production and Characterization of Antibodies against Carboxymethyllysine-modified Proteins

Immunolocalization of the Glycoxidation Product Nɛ-(carboxymethyl) Lysine in Normal and Inflamed Human Intestinal Tissues

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