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

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 ...

Hurler Syndrome can attack a patient's organs ... "It's something that they now screen for on newborn screenings," his mother, Melody Rupple, said. "But that didn't start happening until a ...

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 ...