Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronid-ase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4- ye...Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronid-ase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4- year, 6- month-old boy with mixed donor chimerism and low enzyme levels but a normal neurodevelopmental trajectory.展开更多
文摘Hurler syndrome is a lysosomal storage disease resulting in fatal cardiac or neurologic sequelae unless alpha-iduronid-ase production is reconstituted with hematopoietic stem cell transplantation. We report on a 4- year, 6- month-old boy with mixed donor chimerism and low enzyme levels but a normal neurodevelopmental trajectory.
