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  1. No Access

    Article

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...

    Martina Huemer, Daria Diodato, Diego Martinelli… in Journal of Inherited Metabolic Disease (2018)

  2. No Access

    Article

    Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

    Early onset torsion dystonia are rare movement disorders. Molecular defect is known for only a subgroup, consisting of a unique and recurrent mutation in the TOR1A gene. We undertook a nationwide census of French...

    M. Y. Frédéric, F. Clot, L. Cif, A. Blanchard, A. Dürr, I. Vuillaume… in Neurogenetics (2008)

  3. No Access

    Article

    Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis

    Hyper-IgD and periodic fever syndrome (HIDS) is a hereditary autoinflammatory syndrome, characterized by recurrent inflammatory attacks. Treatment of HIDS is difficult. Recently, the IL-1ra analogue anakinra w...

    M. Cailliez, F. Garaix, C. Rousset-Rouvière… in Journal of Inherited Metabolic Disease (2006)

  4. No Access

    Chapter

    Inborn and Acquired Mitochondrial Leucodystrophy

    In the last decades, the concept of “leucodystrophy” has dramatically evolved. These diseases initially were studied by clinical examination and neuropathology only. Their classification was based on their pat...

    B. Chabrol, C. Raybaud in Mitochondrial Disorders (2002)

  5. 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)

  6. No Access

    Chapter

    Therapy of Muscular Contractures

    Contractures occur early in the course of neuromuscular diseases. They may even be present at birth as in the case of congenital myotonic dystrophy and congenital myopathies. Up till now, contractures were reg...

    B. Chabrol, P. Carrelet, G. Bollini in Exercise Intolerance and Muscle Contracture (1999)

  7. No Access

    Chapter

    Anaesthesia and resuscitation of the genetically related living donor in liver transplantation

    Liver transplantation has become a method used in the treatment of an increasing number of adults and children suffering from end stage liver disease. As a consequence, there is a discrepancy between the avail...

    D. Gille, O. Boillot, M. C. Graber… in Procurement, Preservation and Allocation o… (1997)

  8. No Access

    Article

    Relapsing acute encephalopathy: A complication of diphtheria-tetanus-poliomyelitis immunization in a young boy

    Neurological complications of immunizations are rare. We report the case of relapsing acute encephalitis in a boy after two subsequent diphtheria-tetanus-poliomyelitis vaccinations. First the clinical signs we...

    J. Mancini, B. Chabrol, N. Pinsard, E. Moulene in European Journal of Pediatrics (1996)

  9. No Access

    Article

    Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy

    We have performed localised proton magnetic resonance spectroscopy (MRS) of the brain on four patients with X-linked adrenoleukodystrophy (X-ALD). The spectrum is characterised at the beginning of the disease ...

    S. Confort-Gouny, J. Vion-Dury, B. Chabrol, F. Nicoli, P. J. Cozzone in Neuroradiology (1995)

  10. No Access

    Article

    Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

    We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she die...

    V. Paquis-Flucklinger, F. Pellissier, J. Camboulives… in European Journal of Pediatrics (1995)

  11. No Access

    Chapter

    Anesthesia and resuscitation of the genetically related living donor in liver transplantation

    In view of recent results, liver transplantation has become a therapeutic method proposed for an increasing number of adult and children patients affected with lethal liver disease. Consequently, there is a di...

    D. Gille, O. Boillot, M. C. Graber, P. Sagnard, C. Baude… in Organ Shortage: The Solutions (1995)

  12. No Access

    Article

    Valproate-induced hepatic failure in a case of cytochromec oxidase deficiency

    We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochromec oxidase (COX) was demonstrated in her ci...

    B. Chabrol, J. Mancini, D. Chretien, P. Rustin… in European Journal of Pediatrics (1994)

  13. No Access

    Chapter

    Image-Guided Proton MR Spectroscopy in Epilepsy

    Localised proton magnetic resonance (MR) spectroscopy of the human brain is a new non-invasive technique which allows the detection of cerebral intermediary and oxidative metabolites (Hanstock et al, 1988). MR...

    P. J. Cozzone, J. Vion-Dury, S. Confort-Gouny… in Magnetic Resonance Scanning and Epilepsy (1994)

  14. No Access

    Article

    l-2-Hydroxyglutaric aciduria: Two further cases

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