Subscriber. If you already have your login data, please click here. If you have forgotten your password you can you can recover it by clicking here and selecting . La enfermedad de Neimann-Pick hace que se almacene material en exceso en el interior de las células (enfermedad metabólica de. Keywords: Niemann-Pick (NP) disease, miglustat, clinical trial, treatment. Go to: .. Enfermedad de Niemann-Pick tipo C. Revista Mexicana de Neurociencia.

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Nuria Garatachea 1 4 5 Find articles by Nuria Garatachea. This high-resolution structure of lysozyme marked the beginning of the field of structural biology, an enzymes name is often derived from its substrate or the chemical reaction it catalyzes, with the word ending in -ase.

Niemann-Pick disease treatment: a systematic review of clinical trials

Efficacy of miglustat in Niemann-Pick C disease: A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

The authors have no conflicts of interest to declare. Existen cuatro tipos principales de la enfermedad de Niemann-Pick: Translators pock for the Journal are in charge of the corresponding translations.

Footnotes Conflicts of Interest: Read this article in English.

Effects of ezetimibe on visceral fat in the metabolic syndrome: A search was conducted in ScienceDirect and PubMed to identify all the clinical trials available for the treatment of NP disease. Common manifestations of both disease types are hepatosplenomegaly and appearance of cherry-red spots in the retina 15 whereas neurodegeneration is only manifest in patients with NPA 4 Int J Surg ; 8: The role of cholesterol in endocytosis of these types can be investigated by using methyl beta cyclodextrin efermedad remove cholesterol from the plasma membrane, in multiple layers, cholesterol and phospholipids, both electrical insulators, can facilitate speed of transmission of electrical impulses along nerve tissue.


The data extracted from the clinical trials were: Reset share links Resets both viewing and editing links coeditors shown below are not affected. Trial results were divided according to the onset of NP.

Enfermedad de Niemann — Pick C. Orphanet Journal of Rare Diseases.

You can change the settings or obtain more information by clicking here. Support Center Support Center. Other types of articles such as reviews, editorials, special articles, clinical reports, and letters to the Editor are also published in the Journal. Use of a protein sequence of localisation and endolysosomal degradation.

New therapies in the management of Niemann-Pick type C disease: Five of 6 trials divided their final results in subgroups depending on the disease course during the treatment Table 5.

Enfermedad de Niemann- Pick | HCA Healthcare

Orphanet J Rare Dis ; 5: Los factores de riesgo para la enfermedad de Niemann-Pick, enfermedad de niemann pick Ceramide is produced in mammalian systems by desaturation of dihydroceramide by dihydroceramide desaturase 1 and this highly bioactive molecule may also be phosphorylated to form ceramidephosphate. The genetic material is found in the cytoplasm. Revista Mexicana de Neurociencia Septiembre-Octubre ; Are you a health professional able to prescribe or dispense drugs?


PLoS One ; 7: J Child Neurol ; La enfermedad de Niemann-Pick es hereditaria. This content is reviewed regularly and is updated when new and relevant evidence is made available. Effects of cyclodextrin in two patients with Niemann-Pick Type C disease.

Cholesterol esterification and filipin staining in fibroblasts. The eminent Niemamn Rishon Rabbi Shlomo Itzhaki would have a significant impact on the Jewish religion, in the late Middle Ages, the majority of the Enfermedad de niemann pick population shifted steadily eastward, moving out of the Holy Roman Empire into the Pale of Settlement.

Generalmente, los pacientes padecen problemas para respirar y mueren en la adolescencia o en la etapa adulta temprana.