Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
نویسندگان
چکیده
منابع مشابه
Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
BACKGROUND Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement of life expectancy, the beneficial effect on the skeletal system is limited. As orthopedic complications are one of the most disabling factors following HSCT, this points to the need for new treatment strategies. The study summ...
متن کاملHurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملHematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome).
Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a congenital deficiency of α-L-iduronidase, leading to lysosomal storage of glycosaminoglycans that is ultimately fatal following an insidious onset after birth. Hematopoietic cell transplantation (HCT) is a life-saving measure in MPS IH. However, because a suitable hematopoietic donor is not found for everyone, because HCT is associated...
متن کاملPediatric Hematopoietic Stem Cell Transplantation
The introduction and evolution of hematopoietic stem cell transplantation (HSCT) could be traced back to 1950s, to the studies on interactions among irradiation, covering spleen and bone marrow from it and injection of bone marrow cells. Today, HSCT is considered a well-established, effective and promising means of therapy for various malignant and non-malignant medical conditions, both in chil...
متن کاملHEMATOPOIESIS AND STEM CELLS Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)
1Division of Hematology-Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of MN, Minneapolis, MN, and 2Stem Cell Transplantation Program, Division of Pediatric Hematology Oncology, Manton Center for Orphan Disease Research, Children’s Hospital Boston, and Dana-Farber Cancer Institute; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical S...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2016
ISSN: 1750-1172
DOI: 10.1186/s13023-016-0470-7