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  1. No Access

    Article

    NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

    We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) for tyrosinaemia type I. Mo...

    A. Masurel-Paulet, J. Poggi-Bach, M.-O. Rolland… in Journal of Inherited Metabolic Disease (2008)

  2. No Access

    Article

    Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

    Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: ...

    C. Conter, M. O. Rolland, D. Cheillan, V. Bonnet… in Journal of Inherited Metabolic Disease (2006)

  3. No Access

    Article

    First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

    Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagn...

    M. O. Rolland, L. Cuisset, J. Le Bozec, N. Guffon… in Journal of Inherited Metabolic Disease (2005)

  4. No Access

    Article

    False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?

    Since 1979, newborn screening for cystic fibrosis (CF) has been possible by measuring immunoreactive tryspinogen (IRT) in blood spots. In France, a programme based on a three-stage strategy (IRT/DNA/IRT) start...

    D. Cheillan, M. Vercherat, F. Chevalier-Porst… in Journal of Inherited Metabolic Disease (2005)

  5. No Access

    Article

    A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

    G. Renom, M. Fontaine, M. O. Rolland, J. Duprey… in Journal of Inherited Metabolic Disease (2000)

  6. No Access

    Article

    Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia

    A 6-month-old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was diagnosed, confirmed by significantly reduced activity...

    J. M. Neuberger, S. Schweitzer, M.-O. Rolland… in Journal of Inherited Metabolic Disease (2000)

  7. 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)

  8. No Access

    Article

    Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

    Four patients with primapterinuria, postulated to be due to pterin-4α-carbinolamine dehydratase (PCD) deficiency, were diagnosed by biochemical and DNA analysis. All four patients presented in the neonatal pe...

    B. Thöny, F. Neuheiser, L. Kierat, M. O. Rolland, P. Guibaud, T. Schlüter… in Human Genetics (1998)

  9. 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)

  10. No Access

    Article

    Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionineβ-synthase mutations

    Fasting and post-methionine load plasma total homocysteine concentrations were investigated in the parents of two homocystinuric patients. Three genetic mutations in the cystathionineβ-synthase gene were found. I...

    M. P. Sperandeo, M. Candito, G. Sebastio… in Journal of Inherited Metabolic Disease (1996)

  11. No Access

    Article

    Royal academy of medicine in Ireland international conference on homocysteine metabolism from basic science to clinical medicine

    K. Björkegren, C. Bergmark, U. de Faire… in Irish Journal of Medical Science (1995)

  12. No Access

    Article

    Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

    M. O. Rolland, G. Mandon, A. Bernard, M. T. Zabot… in Journal of Inherited Metabolic Disease (1994)

  13. No Access

    Article

    Resistance to erucic acid as a selectable marker for peroxisomal activity: Isolation of revertants of an infantile Refsum disease cell line

    A system based on the ability of cells to oxidize very long-chain fatty acids (VLCFA) was developed to selectin vitro normal human fibroblasts from fibroblasts of patients suffering from peroxisomal disorders wit...

    Bachir El Bioukar, F. Straehli, K. Heng Ng… in Journal of Inherited Metabolic Disease (1994)

  14. 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)

  15. No Access

    Article

    Magnetic resonance imaging in juvenile Canavan disease

    We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the promi...

    P. B. Toft, R. Geiß-Holtorff, M. O. Rolland, O. Pryds… in European Journal of Pediatrics (1993)

  16. 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)

  17. No Access

    Article

    3-Hydroxy-3-methylglutaric aciduria in Portuguese population

    L. Vilarinho, M. L. Cardoso, D. Rabier… in Journal of Inherited Metabolic Disease (1993)

  18. 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)

  19. 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)

  20. No Access

    Article

    The place of fetal liver transplantation in the treatment of inborn errors of metabolism

    Over the last 16 years, 202 fetal tissue transplants have been performed in our department to treat 29 patients with severe inborn errors of metabolism without immunodeficiency, 26 patients with congenital and...

    J. -L. Touraine, S. Laplace, F. Rezzoug… in Journal of Inherited Metabolic Disease (1991)

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