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6 Result(s)

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  1. 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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  2. 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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  3. 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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  4. No Access

    Article

    Recent results of hematopoietic stem cell transplantation for thalassemia with busulfan-based conditioning regimen in France: improved thalassemia free survival despite frequent mixed chimerism. A retrospective study from the Francophone Society of Stem Cell Transplantation and Cellular Therapy (SFGM-TC)

    Marica Rossi, Sarah Szepetowski, Karima Yakouben… in Bone Marrow Transplantation (2023)

  5. No Access

    Article

    Ovarian tissue cryopreservation for fertility preservation before hematopoietic stem cell transplantation in patients with sickle cell disease: safety, ovarian function follow-up, and results of ovarian tissue transplantation

    To describe the experience of performing ovarian tissue cryopreservation (OTC) before hematopoietic stem cell transplantation (HSCT), among girls/women with severe sickle cell disease (SCD)(SS or S/β0-thalassemia...

    Mitawa Millin Missontsa, Françoise Bernaudin… in Journal of Assisted Reproduction and Genet… (2024)

  6. No Access

    Article

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

    Marion Peyre, Flore Sicre de Fontbrune, Ana Berceanu… in Bone Marrow Transplantation (2024)