Sökning: onr:"swepub:oai:lup.lub.lu.se:b879f4f2-8542-4034-8cde-0ed53cc02588" >
Recommendations on ...
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
Wraith, James E. (författare)
-
Baumgartner, Matthias R. (författare)
-
Bembi, Bruno (författare)
-
visa fler...
-
Covanis, Athanasios (författare)
-
Levade, Thierry (författare)
-
Mengel, Eugen (författare)
-
Pineda, Merce (författare)
-
Sedel, Frederic (författare)
-
Topcu, Meral (författare)
-
Vanier, Marie T. (författare)
-
- Widner, Håkan (författare)
- Lund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
-
Wijburg, Frits A. (författare)
-
Patterson, Marc C. (författare)
-
visa färre...
-
(creator_code:org_t)
- Elsevier BV, 2009
- 2009
- Engelska.
-
Ingår i: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192. ; 98:1-2, s. 152-165
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the absence of national or international clinical management guidelines. In this paper, we seek to address this important gap in the Current literature. An expert panel Was convened in Paris, France in January 2009 to discuss best care practices for NP-C. This commentary reviews Current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting. (C) 2009 Elsevier Inc. All rights reserved.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Guidelines
- Treatment
- Screening
- Niemann-Pick disease type C
- Diagnosis
- Monitoring
Publikations- och innehållstyp
- art (ämneskategori)
- vet (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Wraith, James E.
-
Baumgartner, Mat ...
-
Bembi, Bruno
-
Covanis, Athanas ...
-
Levade, Thierry
-
Mengel, Eugen
-
visa fler...
-
Pineda, Merce
-
Sedel, Frederic
-
Topcu, Meral
-
Vanier, Marie T.
-
Widner, Håkan
-
Wijburg, Frits A ...
-
Patterson, Marc ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Neurologi
- Artiklar i publikationen
-
Molecular Geneti ...
- Av lärosätet
-
Lunds universitet