Zobrazeno 1 - 10
of 77
pro vyhledávání: '"J J, Hopwood"'
Publikováno v:
Neurochemical research. 37(6)
Allogenic stem cell transplantation can reduce lysosomal storage of heparan sulfate-derived oligosaccharides by up to 27 % in Sanfilippo MPS3a brain, but does not reduce the abnormal storage of sialolactosylceramide (GM3) or improve neurological symp
Autor:
Schröder W, Manfred Wehnert, Marlies Zschiesche, L. Petruschka, G. Seidlitz, Falko H. Herrmann, J J Hopwood
Publikováno v:
Journal of Medical Genetics. 30:210-213
DNA based and biochemical diagnosis of MPS II was performed on 13 unrelated families using Southern blotting. The 35S-sulphate accumulation in cultured fibroblasts was investigated and the iduronate-2-sulphatase (IDS) activity in the serum determined
Autor:
D, Auclair, J J, Hopwood
Publikováno v:
Neuropathology and applied neurobiology. 33(5)
Alpha-mannosidosis is an inherited metabolic disorder characterized by a reduction in alpha-D-mannosidase and intralysosomal accumulation of undegraded mannose-containing oligosaccharides. The alpha-mannosidosis guinea pig exhibits pathological simil
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). Supplement. 94(447)
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme-N-acetylgalactosamine 4-sulphatase (ASB). Enzyme replacement therapy with recombinant human ASB (rhASB) has been studied in a rando
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 49(5)
Lysosomal storage disorders represent a group of over 45 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein or, in a few cases, from non-lysosomal proteins that are involved in lysosomal biogenesis. A co
Publikováno v:
The journal of family planning and reproductive health care. 27(3)
To establish a measure of testing for Chlamydia trachomatis within the Liverpool Women's Hospital with a view to optimising both testing and management of infection.Prospective observational study to review the outcome of Chlamydia testing and subseq
Publikováno v:
Clinical chemistry. 47(8)
Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the lysosomal acid alpha-glucosidase. Enzyme replacement therapy for the infantile and juvenile forms of Pompe disease currently is under
Publikováno v:
The Southeast Asian journal of tropical medicine and public health. 30
Lysosomal storage disorders (LSD) represent a group of over 40 distinct genetic diseases with a total incidence of approximately 1:7,000 births. Bone marrow transplantation and enzyme replacement therapy are currently in use for the treatment of some