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  1. Article

    Open Access

    Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

    Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin… in Orphanet Journal of Rare Diseases (2021)

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  2. No Access

    Article

    Cervical spine alignment in the pediatric population: a radiographic normative study of 150 asymptomatic patients

    To describe the normal cervical sagittal alignment of the pediatric spine in a normal population and to identify the changes during growth period.

    K. Abelin-Genevois, A. Idjerouidene, P. Roussouly, J. M. Vital… in European Spine Journal (2014)

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    Chapter

    Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients

    The mucopolysaccharidoses (MPS) are genetic lysosomal storage diseases. Peripheral bone dysplasia and spinal involvement are the predominant orthopedic damage. The risk of spinal cord compression due to stenos...

    N. Pauchard, C. Garin, J. L. Jouve, P. Lascombes, P. Journeau in JIMD Reports Volume 16 (2014)

  4. No Access

    Article

    Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

    Over the last 15 years, we have performed a total of 30 haematopoietic stem cell transplants on 27 children suffering from Hurler's syndrome. These children were of median age 11 months at the time of diagnosi...

    G Souillet, N Guffon, I Maire, M Pujol, P Taylor, F Sevin… in Bone Marrow Transplantation (2003)