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Hurler syndrome

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Hurler syndrome
Hurler's disease, mucopolysaccharidosis IH Metabolic disease An AR condition caused by a defect in lysosomal α-L-iduronidase; Sx develop by end of first yr Clinical Gargoylism–coarse thick features, Breshnikov–prominent dark–eyebrows, cloudy corneas, progressive stiffness, mental retardation, heart and heart valve defects; death in early teens due to heart disease. See GL.


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The topic of her dissertation was "Gross Motor and Gait Abilities of Children With Hurler Syndrome, Pre- and Post-Umbilical Cord Blood Transplant.
Stem cells derived from umbilical cord blood are currently a treatment option for over 40 diseases, including cancers such as acute lymphoblastic leukemia and Non-Hodgkins lymphoma, certain bone marrow failure syndromes such as severe aplastic anemia and neuroblastoma, certain blood disorders such as sickle cell anemia and other metabolic diseases such as Hurler syndrome.
MPS I encompasses three related disorders, the most severe form of which is Hurler syndrome, a crippling and fatal disease that affects young children.
 
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