نتایج جستجو برای: lamy
تعداد نتایج: 314 فیلتر نتایج به سال:
Nicolas Thomas,* Holger Sierks, Cesare Barbieri, Philippe L. Lamy, Rafael Rodrigo, Hans Rickman, Detlef Koschny, Horst Uwe Keller, Jessica Agarwal, Michael F. A'Hearn, Francesco Angrilli, Anne-Therese Auger, M. Antonella Barucci, Jean-Loup Bertaux, Ivano Bertini, Sebastien Besse, Dennis Bodewits, Gabriele Cremonese, Vania Da Deppo, Björn Davidsson, Mariolino De Cecco, Stefano Debei, Mohamed Ram...
Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and ...
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, wi...
2. Caminero AB. Síndrome de encefalopatía posterior reversible. Neurología. 2005;20:327—31. 3. Roth C, Ferbert A. Posterior reversible encephalopathy syndrome: long-term follow-up. J Neurol Neurosurg Psychiatry. 2010;81:773—7. 4. Ducros A, Boukobza M, Porcher R, Sarov M, Valade D, Bousser MG. The clinical and radiological spectrum of reversible cerebral vasoconstriction síndromes. A prospective...
The metaheuristic approach has become an important tool for the optimization of design in engineering. In that way, its application to the development of the plasmonic based biosensor is apparent. Plasmonics represents a rapidly expanding interdisciplinary field with numerous transducers for physical, biological and medicine applications. Specific problems are related to this domain. The plasmo...
Two hereditary syndromes characterized by the association of retinal changes and erythrocytic anomalies have been described: (1) Retinopathy complicating haemoglobin anomalies, thalassaemia (Rudd, Evans, and Peeney, 1953), or sickle-cell anaemia (Lieb, Geeraets, and Guerry, 1959); (2) Atypical retinitis pigmentosa with thorny erythrocytes (acanthocytosis: Bassen and Kornzweig, 1950; Kornzweig a...
Pycnodysostosis is a rare sclerosing bone dystrophy. The main clinical features are short stature and oral and maxillofacial abnormalities such as a large head, a small and underdeveloped face with prominent nose and eyes, irregular dentition, small hands and feet with dystrophic nails, and trunk deformities such as scoliosis. The differential diagnosis is established with other skeletal dyspla...
Utilisation du froid pour la stérilisation des viandes ladres à l'abattoir frigorifique de Fort-Lamy
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