24 Result(s)

Article

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

l-2-hydroxyglutaric aciduria (l-2-HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by mutations in the gene encoding l-2-hydroxyglutarate dehydrogenase. An assay to evaluate l-2-hydrox...

M. Kranendijk, G. S. Salomons, K. M. Gibson… in Journal of Inherited Metabolic Disease (2009)

Article

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM

External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests. ERNDIM (European Research Network for evaluation and i...

B. Fowler, A. Burlina, V. Kozich, C. Vianey-Saban in Journal of Inherited Metabolic Disease (2008)

Article

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

High concentrations of butyryl/isobutyrylcarnitine (C₄-carnitine) in plasma with increase of ethylmalonic acid (EMA) in urine point to different genetic entities, and further investigations are required to differ...

B. Merinero, C. Pérez-Cerdá, P. Ruiz Sala… in Journal of Inherited Metabolic Disease (2006)

Article

CDG IIx with unusual phenotype

Summary: Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II...

D. Cheillan, S. Cognat, C. Dorche, J. Jaeken… in Journal of Inherited Metabolic Disease (2004)

Article

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

Summary: The mitochondrial oxidative phosphorylation and fatty acid oxidation pathways have traditionally been considered independent major sources of cellular energy production; however,...

J. J. Gargus, K. Boyle, M. Bocian, D. S. Roe… in Journal of Inherited Metabolic Disease (2003)

Article

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

Summary: We report identification of short-chain acyl-CoA dehydrogenase (SCAD) deficiency in a 12-year-old boy who suffered from recurrent attacks of vomiting once or twice a year from infancy. Growth and develo...

J. Seidel, S. Streck, K. Bellstedt… in Journal of Inherited Metabolic Disease (2003)

Article

Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

C. Vianey-Saban, R. Bouvier, P. Cochat… in Journal of Inherited Metabolic Disease (2000)

Article

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

Two sisters were investigated at the ages of 20 and 13 years owing to persistently increased serum creatine kinase and recurrent episodes of rhabdomyolysis after emotional stress in the older and myalgias in t...

B. Merinero, S. I. Pascual Pascual… in Journal of Inherited Metabolic Disease (1999)

Article

Recognition and management of fatty acid oxidation defects: A series of 107 patients

In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear ver...

J. M. Saudubray, D. Martin, P. De Lonlay… in Journal of Inherited Metabolic Disease (1999)

Article

Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C14:1ω-9) in the diagnosis of long-chain fatty acid oxidation defects

P. Divry, C. Vianey-Saban, M. Mathieu in Journal of Inherited Metabolic Disease (1999)

Article

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

B. S. Andresen, S. Olpin, E. A. Kvittingen… in Journal of Inherited Metabolic Disease (1999)

Article

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels

E. Riudor, J. A. Arranz, R. Anguera, S. Salcedo… in Journal of Inherited Metabolic Disease (1998)

Article

Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry

C. Vianey-Saban, N. Guffon, F. Delolne… in Journal of Inherited Metabolic Disease (1997)

Article

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

K. E. Baerlocher, B. Steinmann, A. Aguzzi… in Journal of Inherited Metabolic Disease (1997)

Article

Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples

Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography—mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For eac...

J. M. Parnet, P. Divry, C. Vianey-Saban… in Journal of Inherited Metabolic Disease (1996)

Article

Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

E. Martins, A. Costa, E. Silva, M. Medina… in Journal of Inherited Metabolic Disease (1996)

Article

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

B. Merinero, C. Pérez-Cerdá, M. J. Garcia… in Journal of Inherited Metabolic Disease (1996)

Article

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

We have shown that all of seven unrelated patients with defective palmitoyl-CoA dehydrogenation have mutations in VLCAD, indicating that they suffer from VLCAD deficiency.

B. S. Andresen, C. Vianey-Saban, P. Bross… in Journal of Inherited Metabolic Disease (1996)

Article

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

C. Vianey-Saban, N. Stremler, O. Paut, T. Buttin… in Journal of Inherited Metabolic Disease (1995)