Hurler's syndrome


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Synonyms for Hurler's syndrome

hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism

References in periodicals archive ?
We present here a case of irreducible umbilical hernia with Hurler's syndrome, who had two previous episodes of intestinal obstruction in the last one year, which resolved spontaneously.
Kirkcaldy Sheriff Court heard two of her three children, Cody and McKayla, suf fer from Hurler's syndrome.
Hurler's syndrome has a frequency of one in 100,000 live births in Australia.
Dao Pan, the study's principal author, said that the study suggests a new approach to molecular gene therapy and a much-needed improved treatment option for children with Hurler's syndrome.
Wilschanski and Kerem said that their discovery could serve as a basis for treatments of other genetic disorders, including muscular dystrophy, Hurler's syndrome, and various types of hemophilia and cancer.
Today they were cutting the first turf at the site of the hospice and were being helped by six-year-old Robyn Waterson, who is suffering from the terminal illness Hurler's syndrome.
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome.
Referral is also urgent after diagnosis of leukemia and of inborn errors of metabolism such as Hurler's syndrome, which can lead to severe progressive organ dysfunction if the deficient enzyme is not replaced early, he noted.
Reading about the Brain and Tissue Bank's program that would allow Ivy's tissue to be used for research on Hurler's syndrome to help other affected children, Linda felt empowered.
Then put yourself in the place of the parents of children with Hurler's syndrome.
Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristicgibbus deformity, Mil Med 163 (1998), 711-714.
UTRECHT, The Netherlands, March 14, 2013 --Transplants of blood-forming stem cells from umbilical cord blood may be an effective alternative to transplants of matched donor bone marrow stem cells to treat children with a rare, debilitating disease known as Hurler's syndrome (HS), according to a study.
ATHX) said that the FDA has granted orphan drug designation to MultiStem, Athersys' proprietary cell therapy, for the treatment of Hurler's syndrome, also known as mucopolysaccharidosis type I or MPS-I.
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.