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Статті в журналах з теми "Mucopolysaccharidosis Metabolism Disorders":
Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.
Scarpa, Maurizio, Charles Marques Lourenço, and Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.
Kaczor-Kamińska, Marta, Kamil Kamiński, and Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders." Antioxidants 11, no. 4 (March 30, 2022): 678. http://dx.doi.org/10.3390/antiox11040678.
Baxi, Kalgi, Ashish Jagati, and Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report." Nepal Journal of Dermatology, Venereology & Leprology 18, no. 1 (October 8, 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.
Alden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz, and Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.
Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Zahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan, and Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1." Journal of Pediatric Endocrinology and Metabolism 32, no. 11 (November 26, 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.
De Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, and Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes." Cells 11, no. 1 (December 31, 2021): 129. http://dx.doi.org/10.3390/cells11010129.
Marsden, Deborah, and Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders." Clinical Chemistry 56, no. 7 (July 1, 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.
Дисертації з теми "Mucopolysaccharidosis Metabolism Disorders":
Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.
Zarrinkalam, Krystyna. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI." Title page, contents and introduction only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phz38.pdf.
Zarrinkalam, Krystyna Helena. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI / by Krystyna Zarrinkalam." Thesis, 2001. http://hdl.handle.net/2440/21750.
Includes bibliographical references (leaves 178-231).
xiv, 234, [19] leaves, [56] leaves of plates : ill. (chiefly col.) ; 30 cm.
To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts
Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2001
Feldhammer, Matthew. "N-acétyltransférase lysosomale : organisation, fonctionnement et défauts moléculaires chez les patients atteints du syndrome de Sanfilippo type C." Thèse, 2009. http://hdl.handle.net/1866/3729.
The acetylation of terminal glucosamine residues by lysosomal N-acetyltransferase (HGSNAT) is an essential part of the catabolic breakdown of heparan sulfate. Defects in this reaction result in the rare autosomal recessive lysosomal storage disorder Sanfilippo syndrome type C (SFC). To date 54 mutations in SFC patients have been reported including 13 splice-site mutations, 11 insertions and deletions, 8 nonsense, 18 missense and 4 polymorphisms, with different phenotypic manifestations. We have identified 10 of them and conducted a comprehensive review discussing the spectrum of Sanfilippo C mutations, their distribution within the patient population as well as how the mutations could potentially affect the structure of HGSNAT. Splicing errors, nonsense mutations, insertions and deletions were all predicted to result in non-functional RNA which is rapidly degraded by cellular quality control mechanisms. The 4 identified polymorphisms resulted in amino acid changes which did not affect the enzyme activity, glycosylation or targeting and were therefore not clinically significant. Polymorphisms, in the context of enzymes are amino acid changes not affecting function, but in the context of nucleic acids can still be considered as missense mutations. Eighteen missense mutations were expressed and shown be inactive due to errors in protein folding providing an explanation for the severe disease progression seen in individuals with these mutations. Misfolded mutants were abnormally glycosylated and retained in the endoplasmic reticulum. Enzyme enhancement/chaperone therapy is a potential treatment option specifically designed to exploit the residual enzyme activity of misfolded mutants in order to clear stored substrates. We demonstrated that treatment of several fibroblast lines of SFC patients with a specific inhibitor of HGSNAT; glucosamine-hydrochloride partially rescued mutant enzyme activity providing a proof of principle for the future use of chaperone therapeutics in the treatment of SFC.
Книги з теми "Mucopolysaccharidosis Metabolism Disorders":
Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.
Tomatsu, Shunji, Roberto Giugliani, Tadao Orii, Maurizio Scarpa, and Paul Harmatz. Mucopolysaccharidoses Update: Medicine and Health / Endocrinology / Metabolic Disorders. Nova Science Publishers, Incorporated, 2018.
Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0011.
Sybert, Virginia P. Metabolic Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0011.
Частини книг з теми "Mucopolysaccharidosis Metabolism Disorders":
Jones, Simon, and Frits A. Wijburg. "Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders." In Inborn Metabolic Diseases, 577–90. Berlin, Heidelberg: Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-49771-5_39.
Jones, Simon, and Frits A. Wijburg. "Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders." In Inborn Metabolic Diseases, 765–83. Berlin, Heidelberg: Springer Berlin Heidelberg, 2022. http://dx.doi.org/10.1007/978-3-662-63123-2_41.
Cervós-Navarro, Jorge, and Henry Urich. "Disorders of Glycosaminoglycan Metabolism (Mucopolysaccharidoses)." In Metabolic and Degenerative Diseases of the Central Nervous System, 110–36. Elsevier, 1995. http://dx.doi.org/10.1016/b978-012165250-0/50004-0.
Florence, Nicholas. "Pediatric Musculoskeletal Radiology." In Ultrasound Guided Procedures and Radiologic Imaging for Pediatric Anesthesiologists, edited by Anna Clebone, Joshua H. Finkle, and Barbara K. Burian, 155–80. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190081416.003.0014.
Deegan, Patrick B., and Timothy M. Cox. "Lysosomal disease." In Oxford Textbook of Medicine, edited by Timothy M. Cox, 2121–56. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0235.