Therefore, if fibroblasts from patients known to have the Hurler or Hunter syndrome are available, they can be used to distinguish these two syndromes from each other, from other variants of ...

Ezra Rupple concentrated as his left hand guided a pencil over the piece of paper. His grip was firm as he neatly formed the words: "The quick brown fox jumps over the lazy dog." "I practiced ...

Data from the first patients enrolled into Regenxbio's trial of its gene therapy for rare inherited disease mucopolysaccharidosis type I (MPS I) – also known as Hurler syndrome – has shown the ...

The Greenwood Genetic Center has designed a functional platform to assess the pathogenicity of variants of uncertain significance in IDUA identified by newborn screening for MPS I. With further ...

Therefore, if fibroblasts from patients known to have the Hurler or Hunter syndrome are available, they can be used to distinguish these two syndromes from each other, from other variants of ...