Prenatal diagnosis was accomplished for two women who had previously borne children affected with genetic disorders of mucopolysaccharide metabolism — the Hurler syndrome (autosomal recessive ...

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 ...

Writing beautiful cursive is a challenge for everyone, and is even more difficult for Ezra due to Hurler Syndrome, an inherited metabolic disorder that the CDC says renders a person unable to ...

In 2021, Gunner from Highley, Shropshire, was diagnosed with Mucopolysaccharidosis Type I Hurler Syndrome ... including enzyme infusions, and a previous stem cell transplant, which failed.

Her marriage to a 1st cousin had previously produced 2 living children: the 1st, a girl who died at 22 months of age, had a history and photographic appearance consistent with the Hurler syndrome ...