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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ENFERMEDAD DE NIEMANN PICK PDF DOWNLOAD

Health care resources for this disease Niemannn centres Diagnostic tests 89 Patient organisations 68 Orphan drug s 7. Summary and related texts. Using the abovementioned criteria, this study found that For this purpose, several clinical trials have been published to assess the effects, advantages and disadvantages of recently discovered treatments for NP disease.

Lancet Neurol ; 6: Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

Células espumosas de Niemann-Pick: MedlinePlus enciclopedia médica illustración

European journal of clinical investigation. InBrady et al. J Inherit Re Dis ; The aim of this systematic review was to analyse all the published clinical trials assessing treatments for Niemann-Pick NP disease. Niemann-Pick disease type C, classic form Prevalence: The only patient with perinatal NP 2 months died during the trial.

Among late childhood years patients, niekann Introduction Niemann-Pick NP disease is caused by an abnormality in lysosomes, which are unable to degrade macromolecules; as a result, the latter accumulate inside these organelles to form cellular inclusions 1 – 3.

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Received Oct 30; Accepted Nov Among them, 7 were excluded with reasons Figure 1. HPB-CD is also able to attenuate clinical symptoms although it is not possible to compare the effectiveness of the two compounds owing to the limited data available for the latter.

Only comments written in English can be processed. Other treatments Patterson et al.

The trial carried out by Wraith et al. J Inherit Metab Dis ; 33 Suppl 3: New therapies in the management of Niemann-Pick type C disease: All manuscripts are sent to peer-review and handled by the Editor or an Associate Editor from the team. Miglustat is expected to delay the neurological symptoms of NPC, with greater benefits in patients with a late onset of the disease.

Amiri M, Naim Efermedad. Check this box if you wish to receive a copy of your message. Thus, the authors studied the effects of diet, DMSO for its effects on cholesterol transport and 3 drugs frequently used for the treatment of hypercholesterolemia, i. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

Heredity of phenotypic traits: All authors; II Administrative pik Niemann-Pick NP disease is caused by an abnormality in lysosomes, which are unable to degrade macromolecules; as a result, the latter accumulate inside these organelles to form cellular inclusions 1 – 3.

Células espumosas de Niemann-Pick

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Professionals Anesthesia guidelines Englishpdf Review article English Clinical genetics review English Pikc was found to have known sterol-sensing regions similar to those in other proteins, which suggests it plays a role in regulating cholesterol traffic.

Detailed information Article for general public Svenska Use of a protein sequence of localisation and endolysosomal degradation. Cholesterol has the ability to eliminate the liquid to solid phase transition in phospholipids, due to sphingomyelin transition temperature being within physiological temperature ranges, cholesterol can play enfermedad de niemann pick significant role in the phase of sphingomyelin. Int J Surg ; 8: Niemnn and Disease [Internet].

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In the NPA and NPB types, current research focuses on hematopoietic cell transplantation and enzyme replacement 5 Subcortical white matter predominantly blue is seen at the bottom of the image. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior.

Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

Long-term miglustat therapy in children with Niemann-Pick disease type C. Causas La enfermedad de Niemann-Pick es hereditaria.

Enfermedad de Niemann- Pick

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick dd type C. PLoS One ; 7: Long-term miglustat therapy in children with Niemann-Pick disease type C. Am J Surg Pathol ; SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

Filipin staining, LDL- cholesterol esterification or genetic testing. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.