کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9368226 | 1272440 | 2005 | 7 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Evolución de dos pacientes con sÃndrome de Hurler en tratamiento con enzima recombinante humana α-L-iduronidasa
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
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چکیده انگلیسی
Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Anales de PediatrÃa - Volume 63, Issue 1, July 2005, Pages 61-67
Journal: Anales de PediatrÃa - Volume 63, Issue 1, July 2005, Pages 61-67
نویسندگان
O. Sardón, C. GarcÃa Pardos, J. Mintegui, E. Pérez Ruiz, M.J. Coll, A. Chabás, T. Olivé, A. Ruiz Benito,