The lysosomal storage disorders are a group of diseases that typified by an accumulation waste products in the lysosomes. Mucopolysaccharidoses due to diverse enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented our metabolic bone clinic with clinical features were suggestive genetic syndrome associated disease. urine GAG spot test positive. MPS screen identified reduction...

1 Supported by Fondo de Apoyo a la Investigación, Universidad de San Luis Potosí, process # C12-FAI-03-37-37. 2 PhD, Full Professor, Facultad de Enfermería, Universidad Autónoma de San Luís Potosí, San Luís Potosí, San Luís Potosí, Mexico. 3 PhD, Full Professor, Departamento de Personalidad, Evaluación y Tratamiento Psicológico, Facultad de Psicología, Universidad de Salamanca, Salamanca, Spain...

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Dyane Auclaira,∗, David Ketteridgeb, Stephanie Oatesb, John J. Hopwooda and Sharon Byersc Lysosomal Diseases Research Unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia Metabolic unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Australia Matrix Biology Unit, SA Pathology (at Women’s and Children’s Hospital), North Adelaide, SA, Aus...

Introduction. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) (mucopolysaccharidosis MPS II) is a progressive multisystem disorder. Neurodegenerative course characterizes the severe (neuronopathic) form of II. Pathogenetic therapy for disease under development, and symptomatic neurological treatment to be improved. Natural history data are required rationalization care assessment emerge...

Corneal opacification associated with glycosaminoglycan (GAG) deposition occurs in canine mucopolysaccharidosis I (MPS I), a deficiency of the lysosomal enzyme alpha-L-iduronidase. In affected dogs corneal lesions appear similar to those in children with the same disease. Transplantation of bone marrow from unaffected littermates was performed in 5 MPS I affected dogs at 5 months of age. In thr...