Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Anirudh J. Ullal"'
Autor:
Anirudh J. Ullal, Hong Pham, Rajendra Singh, Peter Ross, Carrie A. Graham, Scott M. Norton, Miriam H. Nuffer, Debbie S. Burns, Allen E. Eckhardt, Maria Escolar, Deeksha Bali, Vamsee K. Pamula
Publikováno v:
Practical Laboratory Medicine, Vol 18, Iss , Pp - (2020)
Background: Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and
Externí odkaz:
https://doaj.org/article/1864a58aeda24f8caccb00a7e9cd11c2
Autor:
Rajendra Singh, Shaileja Chopra, Carrie Graham, Melissa Langer, Rainer Ng, Anirudh J. Ullal, Vamsee K. Pamula
Publikováno v:
Diagnostics, Vol 10, Iss 5, p 294 (2020)
Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficien
Externí odkaz:
https://doaj.org/article/652f704710e94b98956e40db95c445c8
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 461-464 (2014)
Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulatio
Externí odkaz:
https://doaj.org/article/983ab154efdf41a5b25f3541b1882e80
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 465-467 (2014)
Mucopolysaccharidosis type VI or Maroteaux–Lamy syndrome is an autosomal recessive lysosomal storage disorder caused by deficiency of arylsulfatase B (ARS-B) enzyme activity. It results in mild to severe multi-organ system failure from accumulation
Externí odkaz:
https://doaj.org/article/eb6c36a4b46f4992b28907a701f27fd3
Autor:
Rainer Ng, Carrie Graham, Anirudh J. Ullal, Vamsee K. Pamula, Melissa Langer, Shaileja Chopra, Rajendra Singh
Publikováno v:
Diagnostics, Vol 10, Iss 294, p 294 (2020)
Diagnostics
Diagnostics
Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b0fc9ea7a36edaa9d5f666fa9a18aa
https://www.mdpi.com/2075-4418/10/5/294
https://www.mdpi.com/2075-4418/10/5/294
Autor:
Debbie S. Burns, Anirudh J. Ullal, Hong Pham, Vamsee K. Pamula, Carrie Graham, Allen E. Eckhardt, Maria L. Escolar, Peter Ross, Scott Norton, Deeksha Bali, Rajendra Singh, Miriam Nuffer
Publikováno v:
Practical Laboratory Medicine
Practical Laboratory Medicine, Vol 18, Iss, Pp-(2020)
Practical Laboratory Medicine, Vol 18, Iss, Pp-(2020)
Background Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca939ec403c82cfecc8135bea2826d7
https://doi.org/10.1016/j.plabm.2019.e00141
https://doi.org/10.1016/j.plabm.2019.e00141
Publikováno v:
Scandinavian Journal of Immunology. 78:140-148
Microparticles (MPs) are small membrane-bound vesicles with potent biological activities that can promote the pathogenesis of rheumatoid arthritis and systemic lupus erythematosus (SLE). These particles contain diverse cellular components and are she
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfdb37cfe8eac3962e4d2cbbd23fa88d
https://doi.org/10.1111/sji.12068
https://doi.org/10.1111/sji.12068
Publikováno v:
Rheumatology. 51:1737-1746
Microparticles (MPs) are small membrane-bound vesicles that arise from activated and dying cells and enter the blood to display pro-inflammatory and pro-thrombotic activities. MPs are 0.1-1.0 μm in size and incorporate nuclear, cytoplasmic and membr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aab1c765b38313498a0ec59cafac779
https://doi.org/10.1093/rheumatology/kes028
https://doi.org/10.1093/rheumatology/kes028
Autor:
Rajendra Singh, Carrie Graham, Lisa Nelson, Rainer Ng, Vamsee K. Pamula, Miriam Nuffer, Anirudh J. Ullal
Publikováno v:
Molecular Genetics and Metabolism. 120:S132-S133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b6b85fa5df15ce34f15519994b3f630
https://doi.org/10.1016/j.ymgme.2016.11.349
https://doi.org/10.1016/j.ymgme.2016.11.349
Autor:
Charles F. Reich, Lisa G. Criscione-Schreiber, David S. Pisetsky, Marc Monestier, Anirudh J. Ullal, Martin Tochacek, Megan E.B. Clowse
Publikováno v:
Journal of Autoimmunity. 36:173-180
Systemic lupus erythematosus is a prototypic autoimmune disease characterized by antibodies to DNA and other nuclear molecules. While these antibodies can form immune complexes, the mechanisms generating the bound nuclear antigens are not known. Thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c8a395da3522ea8292998fecf0a218
https://doi.org/10.1016/j.jaut.2011.02.001
https://doi.org/10.1016/j.jaut.2011.02.001