User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

All Publications

Displaying 6 results.
    • Speech
    Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
    Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel[UCL] Van Hul, W. Van Maldergem, L. (2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
    • Speech
    Sensory neuropathy with decreased NCV in Fabry patients with preserved renal function.
    Ribai, P Henriet, Marielle[UCL] Dehout, F. Roland, D. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
    • Journal article
    Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.
    Van Maldergem, L. Moser, A B Vincent, Marie-Françoise[UCL] Roland, D. Reding, Raymond[UCL] Otte, Jean-Bernard Wanders, R J Sokal, Etienne[UCL] (2005) Journal of Inherited Metabolic Disease — Vol. 28, no. 4, p. 593-600 (2005)
    • Speech
    Major Stroke in Fabry Patients Under Enzyme Replacement Therapy With Agalsidase Alfa
    Roland, D. Dehout, F. Van Maldergem, L. (2005) —
    • Speech
    Successful pregnancy in a patient with Fabry disease receiving enzyme replacement therapy
    Dehout, F. Roland, D. Henry, Fabienne[UCL] Langlois, A Van Maldergem, L. (2006) —
    • Journal article
    A new case of sodium‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review
    Van Vyve, F.‐X. Mercier, N. Papadopoulos, J. Heijmans, C. Dessy, H. Monestier, O. Dewulf, Joseph P.[UCL] Roland, D. (2024) Molecular Genetics & Genomic Medicine — Vol. 12, no.2, p. 2-7 (2024)