maladies rares à expression neurologique mortelles

13:06 Dec 5, 2016
This question was closed without grading. Reason: Other

French to English translations [PRO]
Medical - Medical: Pharmaceuticals / Financial reporting document for drug company
French term or phrase: maladies rares à expression neurologique mortelles
Could someone help me out with the "à expression neurologique mortelles" bit in the phrase: "maladies rares à expression neurologique mortelles"?

Thanks in advance
Julius Ngwa
Canada
Local time: 15:46


Summary of answers provided
4rare and fatal lipid storage diseases/neurolipidoses
liz askew
3rare fatal neurological diseases/conditions/disorder etc.
Nikki Scott-Despaigne


Discussion entries: 2





  

Answers


1 hr   confidence: Answerer confidence 3/5Answerer confidence 3/5
rare fatal neurological diseases/conditions/disorder etc.


Explanation:
Gene therapy and rare fatal neurological diseases.

http://worldwidescience.org/topicpages/f/familial prion dise...


http://www.science.gov/topicpages/i/inherited prion diseases...

"« 1 2 3 4 5 »
Prion Diseases

Technology Transfer Automated Retrieval System (TEKTRAN)

Prion diseases comprise a set of rare fatal neurological diseases found in humans and other mammals. A prion is a protein capable of converting a normal cellular protein (PrPC) into a prion and thereby propagating an infection. ..."


http://medicalxpress.com/news/2016-02-fda-approved-drug-niem...


http://ocm.auburn.edu/newsroom/news_articles/2015/02/auburn-...


http://www.newswise.com/articles/combination-treatment-in-mi...





Nikki Scott-Despaigne
Local time: 21:46
Native speaker of: Native in EnglishEnglish
PRO pts in category: 9

Peer comments on this answer (and responses from the answerer)
neutral  dwt2: Like the translation but not prions - more likely to be the rare genetic disorders Liz mentions
12 mins
  -> I did my searches with "gene therapy" + "rare + fatal + neurological+ diseases" and prions reared their head! Yup, I realize that prions are not necessarily relevant, altho' they can be. ;-) The point is the original does not specify anyway.
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42 mins   confidence: Answerer confidence 4/5Answerer confidence 4/5
rare and fatal lipid storage diseases/neurolipidoses


Explanation:
Based on the lack of context, this is the best I can come up, based on the first reference from Algeria.

1 result (0.51 seconds)
Search Results
[PDF]Programme - Santé Algérie
www.sante.dz/adrmng/6eme-journee.pdf
1.
2.
Translate this page
9h 30 Quelle Prise en charge des Maladies Neuro-Musculaires en Algérie? M. Tazir. 9h 45 Prise en charge des Maladies ..... On peut toutefois distinguer les maladies à expression neurologique quelquefois décrites sous le terme de neurolopidoses(maladie de Tay-Sachs, leucodystrophie métachromatique…), et celles ..
Theory and Practice of Histological Techniques
https://books.google.co.uk/books?isbn=0443102791
John D. Bancroft, ‎Marilyn Gamble - 2008 - ‎Medical
There are three major categories of storage disease: the neurolipidoses in which the ... The most commonly occurring neurolipidosis in childhood has three main ...
Poisonous Plants and Related Toxins - Page 310 - Google Books Result
https://books.google.co.uk/books?isbn=1845933583
Thomas Acamovic, ‎Colin S. Stewart, ‎T. W. Pennycott - 2003 - ‎Nature
... on neurolipidosis have demonstrated that, in addition to the lipid storage, there ... in hereditary and acquired glycoprotein storage diseases (Alroy et al., 1984, ...
Lipid Storage Disorders: Biological and Medical Aspects
https://books.google.co.uk/books?isbn=1461310296
R. Salvayre, ‎L. Douste-Blazy, ‎S. Gatt - 2012 - ‎Science
S. Nevsimalova, Z. Marecek, B. Roth, An E.E.G. study of Wilson's disease Findings in ... V. Frank and V. Lasson, Ophtalmoplegic neurolipidosis: storage cells ir ...



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Note added at 44 mins (2016-12-05 13:51:13 GMT)
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OR

lysosomal storage disorders


Lysosomal Storage Disorders - NORD (National Organization for Rare ...
https://rarediseases.org › For Patients and Families › Rare Disease Information
The symptoms of lysosomal storage disorders are generally progressive ... Gaucher Disease Types I, II, and III: Gaucher disease is the most common ... and C2: Niemann-Pick disease is a group of inherited disorders related to fat metabolism.

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Note added at 4 hrs (2016-12-05 17:26:05 GMT)
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Molecular Therapy - Gene Therapy for Lysosomal Storage Diseases
www.nature.com › Journal home › Archive › Review Article
by MS Sands - ‎2006 - ‎Cited by 198 - ‎Related articles
Gene Therapy for Lysosomal Storage Diseases. Mark S. ... for example sphingolipid activator proteins, which include the GM2 activator protein and the saposins.

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Note added at 4 hrs (2016-12-05 17:28:22 GMT)
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SEE:

NEUROLOGICAL PRESENTATION OF LYSOSOMAL DISEASES

http://www.cetl.net/IMG/pdf/RN_07-046-FS-2.pdf



liz askew
United Kingdom
Local time: 20:46
Works in field
Native speaker of: Native in EnglishEnglish
PRO pts in category: 465
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