نتایج جستجو برای: maroteaux lamy syndrome
تعداد نتایج: 622119 فیلتر نتایج به سال:
A novel liquefying alpha-amylase (LAMY) was found in cultures of an alkaliphilic Bacillus isolate, KSM-1378. The specific activity of purified LAMY was approximately 5,000 U mg of protein-1, a value two- to fivefold greater between pH 5 and 10 than that of an industrial, thermostable Bacillus licheniformis enzyme. The enzyme had a pH optimum of 8.0 to 8.5 and displayed maximum activity at 55 de...
In 1964 de Grouchy, Royer, Salmon, and Lamy described a deaf and mentally retarded microcephalic girl in whom the long arm of one No. 18 chromosome was about half its usual length. Since then two other microcephalic children, a boy and a girl, have been found to have this chromosome aberration (Lejeune, Berger, Lafourcade, and R6thore, 1966). Lejeune suggested on the basis of their findings tha...
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...
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...
A recommendation of: Vercken Elodie, Groussier Géraldine, Lamy Laurent, Mailleret Ludovic The hidden side of the Allee effect: correlated demographic traits and extinction risk in experimental populations https://hal.archives-ouvertes.fr/hal-02570868
Lamy et al., (2022). The 3D Slicer RVXLiverSegmentation plug-in for interactive liver anatomy reconstruction from medical images. Journal of Open Source Software, 7(73), 3920, https://doi.org/10.21105/joss.03920
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