Hurler's syndrome has a frequency of one in 100,000 ... and Biomedical Sciences and Head of the Matrix Biology Unit at SA Pathology, based at the Women's and Children's Hospital.

HURLER's syndrome is a genetically transmitted disorder of mucopolysaccharide metabolism characterized by excessive visceral storage of chondroitin sulfate B and heparitin sulfate, 1 and excessive ...

Hurler's syndrome (the most severe form of mucopolysaccharidosis type I) causes progressive deterioration of the central nervous system and death in childhood. Allogeneic bone marrow ...

Mucopolysaccharidosis type 1, also known as Hurler syndrome, is a rare but life-threatening genetic condition. Babies born with this inherited disorder do not produce an enzyme needed to break down ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS ... professionals and families of children affected by this pathology. A better understanding of the function, genetic ...

A new study from the University of Minnesota is the first to demonstrate the ability for gene therapy to repair neural connections for those with the rare genetic brain disorder known as Hurler ...

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 ...

Erin Eun-Young Ahn, Ph.D., an associate professor in the UAB Department of Pathology’s Division of Molecular and ... “Genetic and molecular basis of hematopoietic abnormalities in ZTTK syndrome.” The ...

A father-of-one who blamed his wrist pain on being desk-bound has told how it was actually a sign of deadly and life-wrecking motor neurone disease (MND), also known as 'locked in syndrome'.

The findings suggest the use of gene therapies - an entirely new standard for treatment - for those with brain disorders like Hurler syndrome, which have a devastating impact on those affected.