نتایج جستجو برای: mucopolysaccharidosis type i
تعداد نتایج: 2218703 فیلتر نتایج به سال:
A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this...
Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro-deletions, 1 micro-duplication 1 translational initiation site mutation, and 1 'no-stop' change (p.X654Re...
After a herculean data-gathering effort, in this issue of Blood, Aldenhoven and colleagues from Europe and North America provide an eye-opening assessment of long-term neurocognitive, organ, joint, and tissue function after allogeneic transplantation of children with mucopolysaccharidosis type I–Hurler syndrome (MPS-IH), along with an analysis defining a path to better these outcomes.
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