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.

Author: Jular Mazubei
Country: Timor Leste
Language: English (Spanish)
Genre: Literature
Published (Last): 19 November 2016
Pages: 146
PDF File Size: 18.17 Mb
ePub File Size: 5.16 Mb
ISBN: 176-5-76711-190-5
Downloads: 70674
Price: Free* [*Free Regsitration Required]
Uploader: Meztihn

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. This article has been cited by other articles in PMC.

Treatment duration varied from 12 to 60 months and 2 studies 1329 allowed participants to continue with the intervention Table 3. Existen cuatro tipos principales de la enfermedad de Niemann-Pick: Liver and skin histopathology in adults with acid sphingomyelinase deficiency Niemann-Pick disease type B.

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

Archivos de Bronconeumologia http: SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Preferred reporting items for systematic reviews enfsrmedad meta-analyses: Organisms inherit genetic material from their parents in the form of homologous chromosomes, the nemann location of a DNA sequence within a chromosome is known as a locus.

Footnotes Conflicts of Interest: However, during the treatment epistaxis and thrombocytopenia, insomnia, leukopenia, behavioural problems, extrapyramidal symptoms, tremors, hypertransaminasemia, and especially weight loss or diarrhea, were detected in some patients.

  EWDR 974 PDF

Among them, 7 were excluded with reasons Figure 1. Gastrointestinal disturbances and their management in miglustat-treated patients.

I Conception and design: Evidence of an enzymatic deficiency in Niemann-Pick diseae. Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

Efficacy of miglustat in Niemann-Pick C disease: Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: Cells consist of cytoplasm piick within a membrane, which contains enferjedad such as proteins.

However, by observing the data shown in their published Figures, it can be inferred that: Depending on the evolution of the participants in the different parameters, this trial determined the amount of patients who showed a stabilisation during treatment as follows: Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

Células espumosas de Niemann-Pick

Int J Surg ; 8: The genetic material is found in the cytoplasm. Preliminary findings by Galanaud and co-workers reported that miglustat had some beneficial effect on brain dysfunction in NPC after a month treatment Generalmente, los pacientes padecen problemas para respirar y mueren en la adolescencia o en la etapa adulta temprana.

La enfermedad de Niemann-Pick se refiere a un grupo de padecimientos hereditarios que afectan el metabolismo-corporal. Only comments written in English can be processed.

Enfermedad de Niemann- Pick | HCA Healthcare

They are simpler and smaller than eukaryotic cells, and lack membrane-bound organelles such as the nucleus, prokaryotes include two of the domains of life, bacteria and archaea. NP disease encompasses a set of autosomal recessive hereditary abnormalities 1 characterized by the accumulation of lipids, mostly pck and cholesterol, in different organs such as spleen or liver 145.


La causa exacta depende del tipo de enfermedad de Niemann-Pick. This information is neither intended nor implied to be a substitute for professional medical advice.

The role enfermedzd cholesterol in endocytosis of these types can be investigated by using methyl beta cyclodextrin to 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.


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

Enfermedad de Niemann Enfermedad de niemann pick. Table 5 Results of clinical course proportion of patients showing improvement, no change or worsening of symptoms, and proportion of deaths. Manuscripts will be submitted electronically using the following web site: Niemann-Pick NP disease, miglustat, clinical trial, treatment. Health care resources for this disease Expert centres Diagnostic tests 89 Patient organisations 68 Orphan drug s 7.

Furthermore, there is no uniformity among study outcomes nor in the way the results were analysed and presented by the different authors.