Hurler Syndrome
Mostrando 1-12 de 19 artigos, teses e dissertações.
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1. Audiometric evaluation in individuals with mucopolysaccharidosis
OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type I
Clinics. Publicado em: 03/12/2018
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2. Mucopolissacaridose tipo I: avaliação de um novo instrumento para classificação fenotípica
Introdução: A mucopolissacaridose tipo I é comumente classificada em três síndromes clínicas (Hurler, Hurler-Scheie e Scheie), de acordo com a gravidade do fenótipo. Devido à alta heterogeneidade da doença e à sobreposição de sintomas em pacientes, alguns autores consideram esta forma de classificação ultrapassada e defendem que a doença apres
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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3. Acquired Brown's syndrome associated with Hurler-Scheie's syndrome.
A 5-year-old Caucasian girl with known Hurler-Scheie's syndrome (mucopolysaccharidosis) developed a right Brown's syndrome while under orthoptic review. There was no evidence of trauma or inflammation of the superior oblique tendon, trochlea, or surrounding tissues. The Brown's syndrome in this case may be due to shortening of the superior oblique tendon, as
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4. Acute myelogenous leukaemia in Hurler's syndrome.
The occurrence of the Hurler syndrome and acute myelogenous leukaemia in a 2 1/2-year-old girl is described. This represents the first published report of the concurrence of these two diseases.
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5. Report of a mucopolysaccharidosis occurring in Australian aborigines.
The first 2 reported cases of a mucopolysaccharidosis occurring in an Australian aboriginal family are presented. Though these children had the characteristic morphological features of the Hurler syndrome, enzyme assay of cultured fibroblasts showed normal levels of alpha-L-iduronidase and decreased activity of arylsulphatase B. Thus, they represented the Hu
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6. Study of the Hurler syndrome using cell culture: definition of the biochemical phenotype and the effect of ascorbic acid on the mutant cell
Fibroblasts from patients with Hurler syndrome retain a distinctive biochemical phenotype when grown in culture which is characterized by increased synthesis of both nonsulfated and sulfated glycosaminoglycans. Ascorbic acid reinforces the phenotypic expression of the biochemical abnormality, producing not only increased synthesis of sulfated glycosaminoglyc
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7. Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.
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8. Lipid abnormalities in a variant of the Hurler syndrome.
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9. OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME*
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10. Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.
Allogeneic bone marrow transplantation is the most effective treatment for Hurler syndrome but, since this therapy is not available to all patients, we have considered an alternative approach based on transfer and expression of the normal gene in autologous bone marrow. A retroviral vector carrying the full-length cDNA for alpha-L-iduronidase has been constr
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11. Corneal clouding in GM1-generalized gangliosidosis.
Corneal clouding is added to the list of clinical and chemical abnormalities which occur both in GM1-generalized gangliosidosis and in Hurler's syndrome (and some other mucopolysaccharidoses). The parents of our patient were first cousin Yemeni and had partial beta-galactosidase deficiency in their leucocytes and cultured fibroblasts.
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12. Enzyme replacement in a canine model of Hurler syndrome.
The Hurler syndrome (alpha-L-iduronidase deficiency disease) is a severe lysosomal storage disorder that is potentially amenable to enzyme-replacement therapy. Availability of a canine model of the disease and a sufficient supply of corrective enzyme have permitted a therapeutic trial lasting 3 mo. Recombinant human alpha-L-iduronidase, purified to apparent