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  1. No Access

    Article

    Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

    M. Tsimaratos, I. Kone-Paut, P. Divry, N. Philip… in Journal of Inherited Metabolic Disease (2001)

  2. No Access

    Article

    Antenatal expression of multiple acyl-CoA dehydrogenase deficiency

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

  3. No Access

    Article

    Combined liver-kidney transplantation in primary hyperoxaluria type 1

    Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder characterised by an increased urinary excretion of calcium oxalate, leading to recurrent urolithiasis, nephrocalcinosis and accumulati...

    P. Cochat, J. M. Gaulier, P. C. Koch Nogueira, J. Feber… in European Journal of Pediatrics (1999)

  4. No Access

    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)

  5. No Access

    Article

    N-acetylaspartylglutamate in Canavan disease: an adverse effector?

    We measured N-acetylaspartate and its precursor/product N-acetylaspartylglutamate (NAAG) in urine of patients with Canavan disease using capillary zone electrophoresis. Abnormal levels of NAAG were found in 3...

    A. P. Burlina, V. Ferrari, P. Divry, W. Gradowska… in European Journal of Pediatrics (1999)

  6. No Access

    Article

    Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

    M. O. Rolland, N. Guffon, G. Mandon, P. Divry in Journal of Inherited Metabolic Disease (1998)

  7. No Access

    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)

  8. No Access

    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)

  9. No Access

    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)

  10. No Access

    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)

  11. No Access

    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)

  12. No Access

    Article

    2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: Report of a new case

    Two new familial cases of 2-ketoglutarate dehydrogenase (2-KGD) deficiency are reported: a girl who died at 10 years and a boy, still alive at 4 years, born to consanguineous parents. The cases developed progr...

    N. Guffon, C. Lopez-Mediavilla, R. Dumoulin… in Journal of Inherited Metabolic Disease (1993)

  13. No Access

    Article

    Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis

    Prenatal diagnosis has been undertaken in 17 pregnancies in 15 families at risk for aspartoacylase deficiency. Amniocentesis was at 14–18 weeks gestation followed by measurement of amniotic fluidN-acetyl-l-aspart...

    M. J. Bennett, K. M. Gibson, W. G. Sherwood… in Journal of Inherited Metabolic Disease (1993)

  14. No Access

    Article

    First-trimester prenatal diagnosis of Canavan disease

    M. O. Rolland, P. Divry, G. Mandon, J. M. Thoulon… in Journal of Inherited Metabolic Disease (1993)

  15. No Access

    Article

    l-2-Hydroxyglutaric aciduria: Two further cases

    P. Divry, C. Jakobs, C. Vianey-Saban… in Journal of Inherited Metabolic Disease (1993)

  16. No Access

    Article

    Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia

    An apparently healthy girl aged 2 years 9 months developed a coma with hepatomegaly within 24h after an influenza-like infection. Plasma glucose and urinary organic acid profile were normal but plasma and urin...

    C. Vianey-Saban, B. Mousson, C. Bertrand, D. Stamm… in European Journal of Pediatrics (1993)

  17. No Access

    Article

    Prenatal diagnosis of Canavan disease

    C. Jakobs, H. J. ten Brink, P. Divry, M. O. Rolland in European Journal of Pediatrics (1992)

  18. No Access

    Article

    Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child

    M. O. Rolland, P. Divry, M. T. Zabot, P. Guibaud… in Journal of Inherited Metabolic Disease (1991)

  19. No Access

    Article

    5-Oxoprolinuria (glutathione synthetase deficiency): a case with neonatal presentation and rapid fatal outcome

    P. Divry, F. Roulaud-Parrot, C. Dorche… in Journal of Inherited Metabolic Disease (1991)

  20. No Access

    Article

    Canavan disease: findings in four new cases

    H. Michelakakis, S. Giouroukos, P. Divry… in Journal of Inherited Metabolic Disease (1991)

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