Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosac...

BACKGROUND Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans (GAGs) in connective tissue. The genotype-phenotype correlation has been addressed in several publications but the picture is not complete. Since...

Mucopolysaccharidosis VI (MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient N-acetylgalactosamine-4-sulfatase activity. A cross-sectional Survey Study in individuals (n = 121) affected with MPS VI was conducted between 2001 and 2002 to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disea...

INTRODUCTION Mucopolysaccharidosis VI (MPS VI) is an inherited lysosomal storage disease caused by a mutation of the gene for arylsulfatase B (ASB). Of the thirty-one patients registered in Germany, almost fifty percent have a Turkish migration background. MPS VI is treated by enzyme replacement therapy (ERT), which is time-consuming and expensive. METHODS This interdisciplinary study explore...

BACKGROUND Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseas...

The subcellular localization 46100 Burjasot of the synucleins has not been established definitively, Spain and suggested sites of action include the presynaptic 3 Although its physiological activity remains unclear, Summary ␣-Syn has been implicated in the etiology of two common neurodegenerative disorders, Alzheimer's disease ␣-Synuclein (␣-Syn) is a 14 kDa protein of unknown (AD) and Parkinso...

The ability of SV40 T antigen to cause abnormalities in cartilage development in transgenic mice and chimeras has been tested. The cis-regulatory elements of the COL2A1 gene were used to target expression of SV40 T antigen to differentiating chondrocytes in transgenic mice and chimeras derived from embryonal stem (ES) cells bearing the same transgene. The major phenotypic consequences of transg...

PURPOSE OF THE STUDY The conservative treatment of an odontoid fracture with immobilization in a halo-vest or collar often results in pseudoarthrosis. Therefore, surgical treatment is preferred, and the Magerl-Böhler anterior osteosynthesis of the C2 dens is one of the options for achieving good bony union. The aim of this study was to show that the success of reducing an odontoid fracture is r...

AMITAVA DUTTA-ROY Contributing Editor IN BROAD TERMS, THE QUALITY OF service of a wide-area network is a measure of how well it does its job—how quickly and reliably it transfers various kinds of data, including digitized voice and video traffic, from source to destination. Back when networks dealt pretty much exclusively with voice telephony, the subject hardly ever came up. The circuit-switch...