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Efficacy of eculizumab in transplantation-associated thrombotic microangiopathy: results of the French nationwide study on behalf of the SFGM-TC and the CNR-MAT

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  1. Article

    Open Access

    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

    The paradigm type I interferonopathy Aicardi-Goutières syndrome (AGS) is most typically characterized by severe neurological involvement. AGS is considered an immune-mediated disease, poorly responsive to conv...

    Marie-Louise Frémond, Marie Hully, Benjamin Fournier… in Journal of Clinical Immunology (2023)

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  2. Article

    Open Access

    Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

    Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic optio...

    Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano… in Bone Marrow Transplantation (2023)

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  3. Article

    Open Access

    Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis

    Some patients with systemic juvenile idiopathic arthritis (SJIA) and severe, refractory disease achieved remission through intensive immunosuppressive treatment followed by autologous hematopoietic stem cell t...

    Guillaume Morelle, Martin Castelle, Graziella Pinto… in Pediatric Rheumatology (2021)

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  4. Article

    Open Access

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

    Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected ...

    Ewa Pronicka, Mariola Ropacka-Lesiak… in Journal of Inherited Metabolic Disease (2017)

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