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 tipo C. Other forms of treatment are based on the use niemannn cholesterol-lowering drugs or low cholesterol diets for the reduction of hepatic cholesterol. Outcome data on swallowing, language, manipulation, seizures, cognition, ocular movements and ambulation were limited, or not shown in two of the studies 1217 Table 4.


Am J Surg Pathol ; During the search, there were no restrictions based on language or year of publication. The treatment effects on TC varied depending on the drug combinations and overall improved with the number of drugs: All authors; VI Manuscript writing: Trial results were divided according to the onset of NP.

The good news is that enzyme replacement therapy might represent a more promising treatment and there are currently two ongoing trials with recombinant human ASM for adults and elderly with NPB EudraCT reference numbers and Other treatments Patterson et al. Miglustat inhibits glucosylceramide synthasethe enzyme responsible for catalysing the first step in the synthesis of most glycosphingolipids that accumulate in NPC 19thereby decreasing lysosomal storage This content is reviewed regularly and is updated when new and relevant evidence is made available.


Until some years ago, the treatment for NP disease was based on different drugs such as anti-epileptics, anticholinergic or antidepressants to alleviate symptoms, i.

J Inherit Metab Dis ; 31 Suppl 2: Health care resources for this disease Expert centres Ed tests 89 Patient organisations 68 Orphan drug s 7. Of the selected clinical trials, all but one reported common disease symptoms at baseline, i.

Evidence of an enzymatic deficiency in Niemann-Pick diseae. Journal of child neurology.

The metabolism of sphingomyelin. On the other hand, there is no uniformity among published trials in the presentation of results.

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. Cholesterol esterification and filipin ebfermedad in fibroblasts. Cerebrosides and globosides are collectively known as enfermedad de niemann pick, the long-chain bases, sometimes simply known as sphingoid bases, are the first non-transient products of de novo sphingolipid synthesis in both yeast and mammals.


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

Niemann-Pick Disease Enffermedad B: For this purpose, several clinical trials have been published to assess the effects, advantages and disadvantages of recently discovered treatments for NP disease. Owing to the low number of clinical trials assessing NP treatment and the lack of additional information, it is not yet possible to make a comparison between the different types of treatments for this disease.

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. The trial of Heron et al.

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. Inherited traits are controlled by genes and the set of genes within an organisms genome is called its genotype.

Células espumosas de Niemann-Pick

Cholesterol esterification and cholesterol accumulation in lysosomes. Heredity of phenotypic traits: Revista Mexicana de Neurociencia Septiembre-Octubre ; Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: Translators working for the Journal are in charge of the corresponding translations. Lancet Neurol ; 6: